Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene

Background: The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed clinical phenotype. Methods: Affected and unaffected individuals in the three families with autosomal...

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Detalhes bibliográficos
Main Authors: Addison, P K F, Berry, V, Ionides, A C W, Francis, P J, Bhattacharya, S S, Moore, A T
Formato: Artigo
Idioma:Inglês
Publicado em: Copyright 2005 British Journal of Ophthalmology 2005
Assuntos:
Clinical Science - Scientific Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1772502/
https://ncbi.nlm.nih.gov/pubmed/15665340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2004.053413
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