Article
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene.
The British journal of ophthalmology - 1 Feb 2005
Addison P K F, Berry V, Ionides A C W, Francis P J, Bhattacharya S S, Moore A T
Abstract excerpt
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 dominant posterior polar cataract underwent full clinical examination and donated blood samples for DNA extraction...
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