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Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

✍ Scribed by William A. Paznekas; Simeon A. Boyadjiev; Robert E. Shapiro; Otto Daniels; Bernd Wollnik; Catherine E. Keegan; Jeffrey W. Innis; Mary Beth Dinulos; Cathy Christian; Mark C. Hannibal; Ethylin Wang Jabs


Book ID
117854116
Publisher
American Society of Human Genetics
Year
2003
Tongue
English
Weight
530 KB
Volume
72
Category
Article
ISSN
0002-9297

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The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra-and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. Patients present with a characteristic facial appeara