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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786888/
https://www.ncbi.nlm.nih.gov/pubmed/19956411

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