Molecular profiling of complete congenital stationary night blindness: A pilot study on an Indian cohort

PURPOSE: Congenital stationary night blindness (CSNB) is a non-progressive retinal disorder that shows genetic and clinical heterogeneity. CSNB is inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait and shows a good genotype–phenotype correlation. Clinically, CSNB is...

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Detalles Bibliográficos
Autores principales: Malaichamy, Sivasankar, Sen, Parveen, Sachidanandam, Ramya, Arokiasamy, Tharigopala, Lancelot, Marie Elise, Audo, Isabelle, Zeitz, Christina, Soumittra, Nagasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962728/
https://www.ncbi.nlm.nih.gov/pubmed/24715752

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