Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

BACKGROUND: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive clinical and genetic heterogeneity present in this group of disorders. Here, we describe the clinical application of an integrated next-generation sequencing approach to determine th...

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Detalhes bibliográficos
Publicado no:BMC Genet
Main Authors: Méndez-Vidal, Cristina, Bravo-Gil, Nereida, González-del Pozo, María, Vela-Boza, Alicia, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4271491/
https://ncbi.nlm.nih.gov/pubmed/25494902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12863-014-0143-2
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