Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration

BACKGROUND: Characterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may identify phenotypic features that correspond with specific genetic defects. MATERIALS AND METHODS: Six members from a non-consanguineous Indian family (three affected siblings, th...

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Detalhes bibliográficos
Publicado no:Ophthalmic Genet
Main Authors: Duncan, Jacque L., Biswas, Pooja, Kozak, Igor, Navani, Mili, Syed, Reema, Soudry, Shiri, Menghini, Moreno, Caruso, Rafael C., Jeffrey, Brett G., Heckenlively, John R., Reddy, G. Bhanuprakash, Lee, Pauline, Roorda, Austin, Ayyagari, Radha
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4289132/
https://ncbi.nlm.nih.gov/pubmed/25007332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2014.929716
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