Oculodentodigital dysplasia

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...

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Bibliographic Details
Main Authors: Dharmil C Doshi, Purvi K Limdi, Nilesh V Parekh, Neepa R Gohil
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Indian Journal of Ophthalmology
Subjects:
Clinodactyly
connexin 43
hypodontia
microcornea
microphthalmia
oculodentodigital dysplasia
syndactyly
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2016;volume=64;issue=3;spage=227;epage=230;aulast=Doshi

Internet

http://www.ijo.in/article.asp?issn=0301-4738;year=2016;volume=64;issue=3;spage=227;epage=230;aulast=Doshi

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