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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Publicat a:Ophthalmic Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2014
Matèries:
Article
Accés en línia: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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