A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract

PURPOSE: Cataracts are the most common cause of blindness worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report a novel mutation in the paired-like homeodomain 3 (PITX3) gene segregating in a four generation English family with an isolated autosomal domi...

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Main Authors: Berry, Vanita, Francis, Peter J., Prescott, Quincy, Waseem, Naushin H., Moore, Anthony T., Bhattacharya, Shomi S.
Format: Artigo
Sprog:Inglês
Udgivet: Molecular Vision 2011
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3103741/
https://ncbi.nlm.nih.gov/pubmed/21633712
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