Oculodentodigital dysplasia
Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It aff...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2016-01-01
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Series: | Indian Journal of Ophthalmology |
Subjects: | |
Online Access: | http://www.ijo.in/article.asp?issn=0301-4738;year=2016;volume=64;issue=3;spage=227;epage=230;aulast=Doshi |