Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration

OBJECTIVES: To describe the clinical phenotype and identify the molecular basis of disease in a consanguineous family of Palestinian origin with autosomal recessive retinal degeneration. METHODS: Eight family members were evaluated with visual acuity and perimetry tests, color fundus photographs, fu...

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Main Authors: Duncan, Jacque L., Roorda, Austin, Navani, Mili, Vishweswaraiah, Sangeetha, Syed, Reema, Soudry, Shiri, Ratnam, Kavitha, Gudiseva, Harini V., Lee, Pauline, Gaasterland, Terry, Ayyagari, Radha
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3799916/
https://ncbi.nlm.nih.gov/pubmed/23044944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archophthalmol.2012.1906
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