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...

Descripción completa

Detalles Bibliográficos
Autores principales: Goldenberg-Cohen, Nitza, Banin, Eyal, Zalzstein, Yael, Cohen, Ben, Rotenstreich, Ygal, Rizel, Leah, Basel-Vanagaite, Lina, Ben-Yosef, Tamar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718492/
https://www.ncbi.nlm.nih.gov/pubmed/23882135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718492/
https://www.ncbi.nlm.nih.gov/pubmed/23882135

Ejemplares similares