A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene

PURPOSE: The purpose of this study is to describe the phenotype of a family with de novo mutation in the GUCY2D. MATERIALS AND METHODS: Five subjects, including two monozygotic twins, underwent ophthalmic clinical examination while some had autofluorescence imaging (AF) and optical coherence tomogra...

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Autors principals: Mukherjee, R, Robson, A G, Holder, G E, Stockman, A, Egan, C A, Moore, A T, Webster, A R
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2014
Matèries:
Laboratory Study
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3983649/
https://ncbi.nlm.nih.gov/pubmed/24480840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2014.7
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