Epstein's Inborn Errors of Development

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 (Kartagener's 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; JURGEN 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. JARVINEN; 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 Mullerian 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. O'Neill 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; Jurgen 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 Sovik, Jorn V. Sagen, INGFRID S. HALDORSEN, erlinG tjora, and PAL R. Njolstad; 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 LU 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. Borjeson-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; Silvere 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 O'Driscoll; 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 Jarvinen, 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 NURNBERG 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