Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP), the most genetically heterogeneous disorder in humans, actually represents a group of pigmentary retinopathies characterized by night blindness followed by visual-field loss. RP can appear as either syndromic or nonsyndromic. One of the most common forms of syndro...

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Main Authors: Goldenberg-Cohen, Nitza, Banin, Eyal, Zalzstein, Yael, Cohen, Ben, Rotenstreich, Ygal, Rizel, Leah, Basel-Vanagaite, Lina, Ben-Yosef, Tamar
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3718492/
https://ncbi.nlm.nih.gov/pubmed/23882135
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