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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Detalles Bibliográficos
Autores principales: Méndez-Vidal, Cristina, Bravo-Gil, Nereida, González-del Pozo, María, Vela-Boza, Alicia, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271491/
https://www.ncbi.nlm.nih.gov/pubmed/25494902
http://dx.doi.org/10.1186/s12863-014-0143-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271491/
https://www.ncbi.nlm.nih.gov/pubmed/25494902
http://dx.doi.org/10.1186/s12863-014-0143-2

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