GJA1 mutations, variants, and connexin 4
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William A. Paznekas; Barbara Karczeski; Sascha Vermeer; R. Brian Lowry; Martin D
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Article
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2009
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John Wiley and Sons
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English
β 248 KB
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