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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: 2014
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Online Access: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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