This third edition of Epstein's 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.
Contents
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.
Ferechté 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 MÉGARBANÉ AND ANDRÉ MÉGARBANÉ
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. 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-JOSÉ 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, AuroreCarré, 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 Søvik, Jørn V. Sagen, INGFRID S. HALDORSEN, erlinG tjora, and PÅL R. Njølstad
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
Silvère van der Maarel and Corry Weemaes
147. RSK2 and the Coffin-Lowry Syndrom
ANNE SCHNEIDER, JEAN-PIERRE DELAUNOY, AND ANDRÉ 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
Céline Huber, Valérie 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
Céline HUBER AND Valérie 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 valÉrie 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 Valérie 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. PTÁ?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
