A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

PURPOSE: To describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and to compare these findings with previously reported cases. METHODS: Using direct sequencing, we screened 142 patients, who had either Leber congenital amaurosis (LCA) or ear...

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Main Authors: Henderson, Robert H., Williamson, Kathleen A., Kennedy, Joanna S., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., FitzPatrick, David R., van Heyningen, Veronica, Moore, Anthony T.
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2009
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Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2786888/
https://ncbi.nlm.nih.gov/pubmed/19956411
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