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Epstein's Inborn Errors of Development

Epstein's Inborn Errors of Development

The Molecular Basis of Clinical Disorders of Morphogenesis

9780199934522
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Description
This third edition of Epsteins Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.
Product Details
OUP USA
85653
9780199934522
9780199934522

Data sheet

Publication date
2016
Issue number
1
Cover
hard cover
Pages count
1552
Dimensions (mm)
216 x 279
Weight (g)
3453
  • I: GENERAL CONCEPTS; 1. Human Malformations and Their Genetic Basis; CHARLES J. EPSTEIN; 2. Principles of Differentiation and Morphogenesis; scott f. gilbert and ritva rice; 3. Model Organisms in the Study of Development and Disease; ethan bier and william mcginnis; 4. Human Genomics and Human Development; Bob Nussbaum; II: Patterns of Development; 5. Development of Left-Right Asymmetry; Hiroshi Hamada; 6. Neural Crest Formation and Craniofacial Development; Kurt A. Engleka and Jonathan A. Epstein; 7. Development of the Nervous System; JOHN L. R. RUBENSTEIN AND LUIS PUELLES; 8. Development of the Eye; David C. Beebe; 9. Development of the Ear; Donna M. Fekete; 10. Molecular Regulation of Cardiogenesis; Deepak Srivastava and Joseph T. C. Shieh; 11. Update on the Development of the Vascular System and Its Sporadic Disorders; M. Michael Cohen Jr; 12. MUSCLE AND SOMITE DEVELOPMENT; Douglas Anderson and Alan Rawls; 13. The Development of Bone and Cartilage; shunichi murakami, haruhiko akiyama, And benoit de crombrugghe; 14. LIMB DEVELOPMENT; MalteSpielmann and Sigmar Stricker; 15. The Sex Determination Pathway; PETER J. eLLIS and robert p. erickson; 16. Development of the Kidney; Kevin T. Bush, Mita M. Shah, Dylan L. Steer, Derina E. Sweeney, and Sanjay K. Nigam; 17. DEVELOPMENT OF THE ENDODERMAL DERIVATIVES IN LUNG, LIVER, PANCREAS, AND GUT; Ben Z. Stanger,; 18. Development of Epidermal Appendages: Teeth and Hair; ATSUSHI OHAZAMA AND PAUL T. SHARPE; III: Defined Core Developmental Pathways Linked to Cilia; Part A: Ciliary Functions: Genesis, Transport, and Reabsorbtion; 19. Primary Ciliary Dyskinesia (Kartageners Syndrome); MICHAL WITT AND ZUZANNA BUKOWY-BIERY??O; 20. The Molecular Basis of Joubert Syndrome and Related Disorders; Jeong Ho Lee and Joseph G. Gleeson; 21. The Bardet-Biedl Syndrome; Val C. Sheffield, Qihong Zhang, Elise Heon, Arlene V. Drack, Edwin M. Stone and Rivka Carmi; 22. The Molecular basis of Oral-facial-digital type I (OFDI) SYNdrome; Brunella Franco 23. Meckel syndrome; Amanda Leightner and Peter C. Harris; 24. From Hydrolethalus to Acrocallosal syndromes: A spectrum of disorders linked to KIF7 gene.; Ferechte Encha-RAZAVI AND Tania ATTIE-BITACH; 25. Sensenbrenner syndrome (Cranioectodermal dysplasia, CED)-a genetically heterogeneous ciliopathy; Joanna Walczak-Sztulpa AND, Anna Latos-Bielenska; PART B: THE SONIC HEDGEHOG SIGNALING PATHWAY; 27. The Hedgehog Signaling Network; M. MICHAEL COHEN; 28. SMITH-LEMLI-OPITZ SYNDROME; WEN-HANN TAN AND MIRA B. IRONS; 29. SHH AND HOLOPROSENCEPHALY; KHOSROW S. HOUSCHYAR, ANDREW A. SMITH, AND JILL A. HELMS; 30. IHH AND ACROCAPITOFEMORAL DYSPLASIA AND BRACHYDACTYLY A1; JAN HELLEMANS AND GEERT R. MORTIER; 31. PTCH AND THE BASAL CELL NEVUS (GORLIN) SYNDROME; ERVIN EPSTEIN JR; 32. GLI3 AND THE PALLISTER-HALL AND GREIG CEPHALOPOLYSYNDACTYLY SYNDROMES; LESLIE G. BIESECKER; 33. SALL1 AND THE TOWNES-BROCKS SYNDROME; JÜRGEN KOHLHASE; 34. MYCN AND FEINGOLD SYNDROME; HANS VAN BOKHOVEN AND HAN G. BRUNNER; 35. PREAXIAL POLYDACTYLY TYPE 2 AND ASSOCIATED LIMB DEFECTS; ROBERT HILL AND LAURA LETTICE; PART C: THE WNT SIGNALING PATHWAY; 36. THE WNT SIGNALING PATHWAY; BEN CHEYETTE, KIMBERLY MULLIGA; 37. AXIN2, TOOTH AGENESIS, AND COLORECTAL CANCER; PEKKA NIEMINEN, LAURA LAMMI, AND HEIKKI J. JÄRVINEN; 38. WNT3 AND TETRA-AMELIA; STEPHAN NIEMANN; 39. ROR2 AND BRACHYDACTYLY TYPE B AND RECESSIVE ROBINOW SYNDROME; ANDREW O. M. WILKIE; 40. CENANI-LENZ SYNDROME; BERND WOLLNIK; 41. GOLTZ SYNDROME (FOCAL DERMAL HYPOPLASIA); IGNATIA B. VAN DEN VEYVER AND V. REID SUTTON; 42. WNT10A AND ODONTO-ONYCHO-DERMAL DYSPLASIA; HALA MeGARBANe AND ANDRe MeGARBANe; 43. AL-AWADI-RAAS-ROTHSCHILD SYNDROME/FUHRMANN SYNDROME; GEOFF WOODS; 44. AXIN AND CAUDAL DUPLICATION ANOMALY; CHRISTINE R. C. ZHANG AND SUYINN CHONG; PART D: PLANAR CELL POLARITY (PCP) PATHWAY; 45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects; Elena Torban, Alexandra Iliescu, and Philippe Gros; IV: Other Defined Core Developmental Pathways; Part A: The Transforming Growth Factor-B Signaling Pathway; 46. An Introduction to TGF-? Family Signaling; Jacqueline Nguyen and Tamara Alliston; 47. NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis; Stefan Mundlos; 48. NODAL Signaling and Heterotaxy; Stephanie M. Ware AND John W. Belmont; 49. ENG, ACVRL1, and SMAD4 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome); SUDHA SRINIVASAN, JONATHAN N. BERG, AND DOUGLAS A. MARCHUK; 50. RUNX2 and Cleidocranial Dysplasia; LINDSAY BURRAGE, YANGJIN BAE, BRENDAN LEE, AND DOBRAWA NAPIERALA; 51. AMH/MIS and Its Receptors: The Persistent Müllerian Duct Syndrome; Jean-Yves Picard; 52. LE3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis; Geert R. Mortier; 53. TGFBR 1/2 and Loeys-Dietz Syndrome; Bart L. Loeys and Harry C. Dietz; 54. ZEB2 and Mowat-Wilson Syndrome; Meredith Wilson, IRINA GIURGEA, AND David Mowa; 55. LTBP4 and Urban-Rifkin-Davis Syndrome; Zsolt Urban; 56. ACVR1 and Fibrodysplasia Ossificans Progressiva; Frederick S. Kaplan, O. W. Towler, and Eileen M. Shore; 57. The Role of the Latent TGF-? Binding Protein 3, LTBP3, in Oligodontia and Bone Density Abnormality; Muhammad Ayub, Abdul Noor, and John B. Vincent; Part B: The Tumor Necrosis Factor Signaling Pathway; 58. Signaling by TNF and Related Ligands; Pascal Schneider; 59. The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias; Jonathan Zonana and Kenneth Huttner; Part C: The Fibroblast Growth Factor Signaling Pathway; 60. Molecular and Cellular Biology of FGF Signaling; DAVID GIVOL AND VERARAGAVAN P. ESWARAKUMAR; 61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndrome; Andrew O. M. Wilkie; 62. FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome; Jeff Milunsky; 63. TWIST1 and the Saethre-Chotzen Syndrome; Ethylin Wang Jabs; 64. KAL1, FGFR1, FGF8, PROKR2, PROK2 and Kallmann syndrome; Jean-Pierre Hardelin and Catherine Dode; 65. TIE2 (TEK) and Venous Malformation; NISHA LIMAYE, MELANIE UEBELHOER, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula; 66. FLT4 (VEGFR3) and Milroy Disease; ROBERT E. FERRELL, DAVID N. FINEGOLD, AND CATHERINE J. BATY; 67. Focal Facial Dermal Dysplasias; Anne M. Slavotinek, Beom Hee Lee, and Robert J Desnick,; Part D: The Glia Cell-derived Neurotrophic Factor Signaling; 68. Signaling Pathways of Glial cell-derived Neurotrophic Factor; Louis Reichardt; 69. RET mutation and function in HSCR, MEN2 and other cancers; Sumantra Chatterjee, Zachary E. Stine, Andrew S. McCallion, and Aravinda Chakravarti1; Part E: Introduction to Endothelin-B Receptor and SOX10 Pathways; 70. Introduction to Endothelin-B Receptor and SOX10 Pathways; MONALEE SAHA AND CHERYL E. GARIEPY; 71. EDNRB, EDN3, and SOX10 and the Shah-Waardenburg Syndrome (WS4); Joke B.G.M. Verheij and, Robert M. W. Hofstra; Part F: The Notch Signaling Pathway; 72. Introduction to Notch Signaling; ALISON MIYAMOTO AND GERRY WEINMASTER; 73. JAG1 and NOTCH2 and the Alagille Syndrome; Nancy B. Spinner, Laura D. Leonard Alexandra M. Falsey, and Ian D. Krantz; 74. DLL3, MESP2, LFNG, HES7, TBX6 and Spondylocostal Dysostosis; Peter D. Turnpenny, Kenro Kusumi, and Sally Dunwoodie; Part G: The P13K-LKB1 Pathway; 75. The PI3K-LKB1 Pathway; REUBEN J. SHAW AND LEWIS C. CANTLEY; 76. PTEN and Cowden and Bannayan-Riley-Ruvalcaba syndromes; Pauline Funchain and Charis Eng; 77. STK11 (LKB1) and Peutz-Jeghers Syndrome; Stylianos E. Antonarakis; 78. TSC1 and TSC2 and Tuberous Sclerosis; David J. Kwiatkowski; Part H: The RAS/ERK/MAPK Pathway; 79. The RAS Pathway; JEFFREY SWENSEN AND DAVID VISKOCHIL; 80. Neurofibromatosis Type 1; David H. Gutmann and Heather Riordan; 81. Clinical Features of Noonan Syndrome; Marco Tartaglia and Bruce D. Gelb; 82. HRAS and Costello Syndrome; Yoko Aoki, Yoichi Matsubara; 83. The Ras/MAPK Pathway and the Cardio-facio-cutaneous Syndrome; Kate Rauen; 84. RASA1 and Capillary Malformation- Arteriovenous Malformation; Nicole Revencu, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula; 85. SPRED1 and Legius syndrome; Hilde Brems, Ludwine Messiaen,and Eric Legius; Part I: Eph-Eph Signaling; 86. Introduction to Eph/ephrin signaling in vertebrate development; Audrey K. ONeill and Jeffrey O. Bush; 87. Craniofrontonasal syndrome and EFNB1 mutations; Peter Wieacker and Judit Horvath; V: Transcription Factors and Chromatin ReguLAtors; Part A: The Homeobox Gene Family; 88. The Role of Hox and Dlx Gene Clusters in Evolution and Development; Frank Ruddle; 89. HOXA1 Deficiency Syndrome; MAX A. TISCHFIELD, ROBERT P ERICKSON, AND ELIZABETH C. ENGLE; 90. HoxA11 and Amegakaryocytic Thrombocytopenia with Radioulnar Synostosis; amy e. geddis; 91. HOXA13 Hand-foot-genital syndrome (MIM#140000) Guttmacher syndrome (MIM#176305; Jeffrey W. Innis; 92. HOXD10 mutations associated with congenital vertical talus and pes cavus claw toe limb abnormalities; Antony E. Shrimpton and E. Mark Levinsohn; 93. HOXD13 and Synpolydactyly; frances r. goodman and peter j. scambler; 94. EMX2 and HESX1 and Type I Schizencephaly and Septo-Optic Dysplasia; DANIEL KELBERMAN AND MEHUL T. DATTANI; 95. PDX1 and Pancreatic Agenesis and Type 2 Diabetes; melissa k. thomas and joel f. habener; 96. MSX1 and hypodontia, orofacial clefting and the Witkop syndrome; MARIE-JOSe H. VAN DEN BOOGAARD AND HANS-KRISTIAN PLOOS VAN AMSTEL; 97. MSX2 in Craniosynostosis and Defects of Skull Ossification; Robert Maxson; 98. SHOX and Dyschondrosteosis and Turner Syndrome; Jay W. Ellison; 99. HLXB9 (MNX1) and Sacral Agenesis and the Currarino Syndrome; stephen scherer, guiseppe martucciello, elena belloni, and michele torre; 100. Branchio-Oto-Renal (BOR) Syndrome; Fowzan Alkuraya and Richard L. Maas; 101. PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurologic Impairment; Linda Reis and Elena V. Semina; 102. NKX2-5 and Congenital Heart Disease; avihu z. gazit, susan n. foerster, and patrick y. jay; 103. LMX1B and the Nail Patella Syndrome; Philippe M. Campeau, Nadejda A. Bespalova, and Brendan H. Lee; 104. ALX Homeobox Gene Family and Frontonasal Dysplasias; ARDA CET?NKAYA AND, NURTEN A. AKARSU; 105. ZEB2 and Mowat-Wilson Syndrome; Anne M. Slavotinek; 106. PRRX1; Joy Samanich and Elaine Pereira,; 107. Developmental abnormalities due to mutations in the Aristaless-related homeobox gene; Cheryl Shoubridge, Michael Field, Richard J. Leventer, and Jozef Gecz; 108. PITX1 associated congenital lower limb malformations; Christina A Gurnett and Matthew B Dobbs; Part B: The Paired-Box (PAX) Gene Family; 109. The Paired-Box (PAX) Gene Family; Introduction to Paired-Box Genes; Cherie Stayner, Caiyun G. Li, Petros P. Petrou, Peter Gruss, and Michael R. Eccles; 110. PAX2 and the Renal-Coloboma Syndrome; MICHAEL R. ECCLES, MATTHEW BOWER, LISA A. SCHIMMENTI; 111. PAX3 and Waardenburg Syndrome Type 1; KIRBY A. ZIEGLER, GARETH N. CORRY, and D. ALAN UNDERHILL; 112. PAX6 and Aniridia and Related Phenotypes; veronica van heyningen and kathleen williamson; 113. PAX9 and Hypodontia; pragna i. patel and donald t. brown; Part C: The Forkhead Gene Family; 114. Introduction to Forkhead Genes; Naoyuki Miura; 115. FOXC1 and FOXL2 and the Axenfeld-Rieger Syndrome and the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome; fred b. berry and michael a. walter; 116. FOXC2, FOXF1, and the 16q24.1 region microdeletions: lymphatic, vascular, cardiac, and other phenotypes; ROBERT P. ERICKSON; 117. FOXE1: Bamforth-Lazarus syndrome, thyroid dysgenesis and thyroid cancerpredisposition; Masaru Katoh, MasukoKatoh, Mireille Castanet, AuroreCarre, and Michel Polak; 118. AAGGF1 and Vascular Disease Klippel-Trenaunay Syndrome; AGGF1 and Vascular Disease Klippel-Trenaunay Syndrome; Part D: The T-Box Gene Family; 119. Introduction to the T-Box Genes, Their Evolution and Roles in Development; VIRGINIA E. PAPAIOANNOU AND SARAH N. GOLDIN; 120. The 22q11.2 deletion syndrome and TBX1; Bernice E. Morrow, Donna M. McDonald-McGinn, and Beverly S. Emanuel; 121. TBX3 and TBX5 and the Ulnar-Mammaryand Holt-Oram Syndromes; MICHAEL J. BAMSHAD AND LYNN B. JORDE; 122. TBX22 and X-linked Cleft Palate and Ankyloglossia; Erwin Pauws and Philip Stanier; Part E: The SOX Gene Family; 123. Sox genes in development and disease; Peter Koopman; 124. Functions of Sox Genes in Development and Disease; David R. FitzPatrick; 125. SOX3 and Infundibular Hypoplasia; Kyriaki S Alatzoglou, Daniel Kelberman, Mehul T Dattani; 126. SOX9 and Campomelic Dysplasia and Sex Reversal; S. Mansour; 127. SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome; PASCAL BROUILLARD, KOEN DEVRIENDT, AND MIIKKA VIKKULA; Part F: Transcription Factors; 128. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes; Lina Naga and thomas j. hornyak; 129. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFNX2); Hannie Kremer, Cor W.R.J. Cremers, Erwin van Wijk, and Frans P. M. Cremers; 130. Char and Branchiooculofacial Syndromes: The AP-2; Transcription Factor Defects MIM# 169100 and 113620; Matthew Bock and Bruce D. Gelb; 131. GATA3 AND HYPOPARATHRYOIDISM, DEAFNESS AND RENAL DISEASE; R. Thakker; 132. FOG-2 (now ZFPM2) and GATA-4, Congenital Heart Disease and Diaphragmatic Hernia; A. Slavotinek; 133. PTF1A: Pancreatic and Cerebellar Agenesis; Jayne A. L. Houghton and Andrew T. Hattersley,; 134. RAI1, Smith-Magenis and Potocki-Lupski syndromes; Melanie Lacaria, Weimin Bi, and James R. Lupski; 135. SALL4 and the Duane Radial-Ray/ Okihiro and Acro-renal-ocular syndromes; Jürgen Kohlhase, Rosa Barrio, AND James D. Sutherland; 136. HNF1B-MODY: A Disorder of Development with Diabetes and Congenital Malformations in Pancreas and Urogenital Tract Due to Mutations in HNF1B; Oddmund S?vik, J?rn V. Sagen, INGFRID S. HALDORSEN, erlinG tjora, and P?L R. Nj?lstad; 137. ZIC1, ZIC4 and FOXC1 in Dandy-Walker Malformation; Kathleen J. Millen,; 138. TRPS1 and the Tricho-rhino-phalangeal Syndromes; HE R MA N N-J O S E F LÜ D E C KE A N D B E R NH A R D HO R S T HE MK E; 139. MED12 and Opitz-Kaveggia Syndrome; M.J. Lyons; 140. Börjeson-Forssman-Lehmann syndrome and PHF6; Mark A. Corbett, Matthew Hunter and Jozef Gecz; Part G: Regulation of Chromatin Structure and Gene Expression; 141. Mechanisms of Regulated Gene Transcription; Robert B. Weiss, Kristen Jepsen, Valentina Perissi, Victoria Lunyak, Michael G. Rosenfeld, and Christopher K. Glass; 142. CBP (CREBBP), the Rubinstein-Taybi Syndrome and the 16p13.3 duplication syndrome; fred petrij AND dorien j. m. peters; 143. ATRX, X-Linked a-Thalassemia Mental Retardation; RICHARD J. GIBBONS, TAKAHITO WADA, AND CHRISTOPHER A. FISHER; 144. IGF2, H19,CDKNIC, and KCNQ1OT1 and the Beckwith-Wiedemann Syndrome; Marcel Mannens, I Karen Temple and Frederic Brioude; 145. Prader-Will Syndrome; McCandless and Suzanne Cassidy; 146. Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome; Silv?re van der Maarel and Corry Weemaes; 147. RSK2 and the Coffin-Lowry Syndrom; ANNE SCHNEIDER, JEAN-PIERRE DELAUNOY, AND ANDRe HANAUER; 148. The BCL6 corepressor (BCOR) and oculofaciocardiodental syndrome; Emma Hilton, Graeme Black, AND Vivian Bardwell; 149. CHD7 and CHARGE syndrome; Donna M. Martin and Conny M. A. van Ravenswaaij-Arts; 150. CARBOXY-TERMINAL DOMAIN PHOSPHATASE 1: CONGENITAL CATARACTS FACIAL DYSMORPHISM NEUROPATHY SYNDROME; Luba Kalaydjieva, Teodora Chamova, and Rebecca Gooding; 151. ESCO2 and Roberts Syndrome; HUGO VEGA, MIRIAM GORDILLO, AND ETHYLIN WANG JABS; 152. MS. 173 / Pathways-Cohesinopathies; Yaning Wu, Matthew A. Deardorff, and Ian D. Krantz; 153. NSD1 and Sotos Syndrome; Remco Visser and Naomichi Matsumoto; 154. KABUKI SYNDROME; Margaret P. Adam, and Louanne Hudgins,; 155. Margaret P. Adam, and Louanne Hudgins, Kenichi Yoshida, Bregje W. M. van Bon and Seishi Ogawa; 156. HDAC4 and 2q37 Deletion Syndrome; Trang Le and Sarah Elsea; 157. Warsaw Breakage Syndrome; Johan P. de Winter; VI: Cellular Processes and Dynamics; Part A: RNA Localization and Control of Activity; 158. Posttranscriptional Control: Nuclear RNA Processing; MAURICE S. SWANSON AND JOHN P. ARIS; 159. FMR1 and the Fragile X Syndrome; Kathryn B. Garber, Jeannie Visootsak, and Stephen T. Warren; 160. TCOF1 (Treacle) and the Treacher Collins Syndrome; JILL DIXON, PAUL A. TRAINOR, AND MICHAEL J. DIXON; 161. RMRP and Cartilage-Hair Hypoplasia; pia hermanns, bernhard zabel, and brendan lee; Part B: Posttranslational Control and Ubiquitination; 162. An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis; PETER K. JACKSON; 163. UBE3A and the Angelman Syndrome; Charles A. Williams; 164. VHL and von hippel-lindau disease; Eamonn R. Maher; 165. PQBP1 and Renpenning Syndrome, Related XLID Syndromes and Nonsyndromic XLID; Charles E. Schwartz; 166. TBCE and the Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome; GEORGE A. DIAZ, RUTI PARVARI, ELI HERSHKOVITZ, AND MONICA SENTMANAT; 167. UBR1 and the N-end Rule Pathway and the Johanson-Blizzard Syndrome; martin zenker; 168.; 169. MID1 and the X-linked Opitz G/BBB Syndrome; Germana Meroni; 170. Peters Plus syndrome; Saskia AJ Lesnik Oberstein, Martine J van Belzen, Raoul CM Hennekam; 171. X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome); Gholson J. Lyon, Lynne M. Bird, and Alan Rope; Part C: Cell Cycle, Proliferation, and Apoptosis; 172. An Introduction to the Mechanisms of Cell Cycle Regulation and Apoptosis; katrien vermeulen, dirk r. van bockstaele, viggo f. i. van tendeloo, and zwi n. berneman; 173. HUTCHINSON-GILFORD PROGERIA SYNDROME; FRANK G. ROTHMAN AND LESLIE B. GORDON; 174. Fanconi Anemia; Henri van de Vrugt and Markus Grompe; 175. RECQL4-related recessive conditions; L Van Maldergem, J Piard, L Larizza and L. L. Wang; 176. TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation); michael j. bamshad; 177. Seckel syndrome; Mark ODriscoll; 178. Miller syndrome; Dagmar Wieczorek David FitzPatrick; 179. Meier-Gorlin Syndrome; Mark E. Samuels, Cheri L. Deal, David L. Skidmore; 180. DESBUQUOIS DYSPLASIA; Celine Huber, Valerie Cormier-Daire; Part D: Guanine Nucleotide-binding Proteins; 181. Extracellular Matrix and Signaling during Development; joanna j. Phillips, scott b. selleck, and sally e. stringer; 182. GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohypoparathyroidism; LEE S. WEINSTEIN; 183. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400; Jerome L Gorski; 184. RAB3GAP1,RAB3GAP2,RAB18and TBC1D20 and the Warburg Microand Martsolf Syndromes; IRENE ALIGIANIS AND MARK HANDLEY; 185. GPR56 and Bilateral Frontoparietal Polymicrogyria; Amit Mukhia and Xianhua Piao; 186. ARHGAP31, DOCK6, RBPJ, EOGT and Adams-Oliver Syndrome; LAURA SOUTHGATE and RICHARD C. TREMBATH; Part E: Microtubule Motors and Cytoskeleton; 187. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration; Anthony Wynshaw-Boris; 188. Classical Lissencephaly; Joseph G. Gleeson and Deborah J. Morris Rosendahl; 189. Lissencephaly with Cerebellar Hypoplasia; ERIC C. OLSON AND CHRISTOPHER A. WALSH; 190. FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III; stephen p. robertson and deborah krakow; 191. Tessier 4 Oblique Facial Clefts; Valeriy Shubinets, Eric Lao, and Richard Maas; 192. Deletion of 7q11.23 Genes and Williams Syndrome; Li Dai, Anna Järvinen, Ursula Bellugi, Debra L. Mills, Timothy T. Brown, Eric Halgren, Barbara R. Pober, AND Julie R. Korenberg; 193. SH3PXD2B and Frank-Ter Haar syndrome; Hans van Bokhoven; Part F: Vesicle-mediated Trafficking and Endocytosis; 194. Inborn Defects of Membrane Trafficking; elina ikonen; 195. VPS13B and Cohen Syndrome; FORBES D .C. MANSON, KATE E. CHANDLER, GRAEME C. M. BLACK, AND DEBORAH J. MORRIS-ROSENDAHL; 196. VPS33B, VIPAS39 and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; Paul Gissen; 197. SEC23A and Cranio-Lenticulo-Sutural Dysplasia; Jinoh Kim and Simeon A. Boyadjiev; 198. Griscelli Syndrome; HAGGIT HURVITZ, ANDREW R. CULLINANE, MARJAN HUIZING, AND YAIR ANIKSTER; Part G: Extracellular Matrix; 199. Extracellular Matrix and Signaling during Development; joanna j. Phillips, scott b. selleck, and sally e. stringer; 200. GPC3 and the Simpson-Golabi-Behmel Syndrome; Michael R. DeBaun, Rick A. Martin, and Scott Saunders; 201. HSPG2 (perlecan), The Silverman-Handmaker type of Dyssegmental Dysplasia,and the Schwartz-Jampel Syndrome; SOPHIE NICOLE, ANDBERTRAND FONTAINE; 202. L1CAM and X-linked Hydrocephalus (L1 syndrome); YVONNE VOS, JEAN-PIERRE FRYNS, AND CONNIE SCHRANDER-STUMPEL; 203. 3M SYNDROME; Celine HUBER AND Valerie Cormier-Daire; 204. Human MMP-2/MT1-MMP Deficiency: The Multicentric Osteolysis with Nodulosis and Arthropathy (MONA) and Winchester Syndromes; Rebecca A. Mosig and John A. Martignetti; 205. ADAMTS10, ADAMTS17 and FBN1 / the Weill-Marchesani Syndrome; carine le goff and valerie cormier-daire; 206. Fraser Syndrome and Related Conditions; peter scambler; 207. COMP and Pseudoachondroplasia; mATTHEW j. rOCK AND dANIEL h. cOHN; 208. Walker-Warburg syndrome: Genetic heterogeneity converging at the abnormal glycosylation of alpha-dystroglycan; Moniek Riemersma, Dirk J. Lefeber, and Hans van Bokhoven; 209. HPSE2 and LRIG2 and the Urofacial syndrome; HELEN M. STUART, ADRIAN S. WOOLF, and WILLIAM G. NEWMAN; 210. Bifid Nose, Anorectal Malformation and Renal Agenesis (BNAR) Syndrome; Fowzan S Alkuraya; 211. CHST14, DSE and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb-Clubfoot Syndrome); Andreas R. Janecke; 212. ADAMTSL2/FBN1 and the Geleophysic Dysplasia; Carine Le Goff AND Valerie Cormier-Daire; 213. SYNPOLYDACTYLY AND MUTATIONS IN THE HOXD13 GENE; Philippe DEBEER, Przemko TYLZANOWSKI, and Nathalie BRISON; 214. Knobloch Syndrome; Fowzan S. Alkuraya; Part H: Junctions, Transporters, and Channels; 215. GJA1 (CONNEXIN 43) AND THE OCULODENTODIGITAL SYNDROME; REBECCA J. RICHARSON AND MICHAEL J. DIXON; 216. KCNJ2 AND THE ANDERSEN-TAWIL SYNDROME; DAVID R. RENNER, RABITA WIL, MARTIN TRISTANI, F. IROUZI, AND LOUIS J. PTa?EK; 217. ANKH AND CRANIOMETAPHYSEAL DYSPLASIA; UWE KORANK, PETER NÜRNBERG AND SIGRID TINSCHERT; VII: Dysmorphic Disease Genes of Unknow Function or Unclassified; 218. Role of EVC and EVC2 in Ellis-van Crevel Syndrome; Marzena Galdzicka, Janice Egeland, and Edward Ginns; 219. P450 oxidoreductase deficiency and Antley-Bixler syndrome; Walter L. Miller; 220. TRIM37 and mulibrey nanism; Kaisa Kettunen, Niklas Karlberg, Susann Karlberg, Hannu Jalanko, Marita Lipsanen-Nyman AND Anna-Elina Lehesjoki; 221. KIAA1279 and Goldberg-Shprintzen Syndrome; ALICE S. BROOKS AND ROBERT M. W. HOFSTRA; 222. GLMN and Glomuvenous Malformation; PASCAL BROUILLARD, LAURENCE M. BOON, AND MIIKKA VIKKULA; 223. The Roles of KRIT1, CCM2, and PDCD10 in the Pathogenesis of Cerebral Cavernous Malformations; David A. McDonald and Douglas A. Marchuk; 224. Proteus Syndrome; Leslie G. Biesecker; 225. Microphthalmia 9 (PDAC); Julie PLAISANCI, and Nicolas CHASSAING,; 226. Ichthyosis prematurity syndrome; Joakim Klar, Anders Vahlqvist, and Niklas Dahl; 227. Microphthalmia with linear skin lesions (MLS) syndrome, an unconventional mitochondrial disorder; AlessiaIndrieri, , Brunella Franco; 228. Mutations in SCARF2 are responsible for the van den Ende- Gupta Syndrome (VDEGS); L. Jerome-Majewska;
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