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Article

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

BMC genetics - 14 Dec 2014

Méndez-Vidal Cristina, Bravo-Gil Nereida, González-Del Pozo María, Vela-Boza Alicia, Dopazo Joaquín, Borrego Salud, Antiñolo Guillermo

Abstract excerpt

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...

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Source

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Identifiers

PMID: 25494902
DOI: 10.1186/s12863-014-0143-2
PMCID: PMC4271491

Genes

BBS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25494902-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.PMID 25494902Read ↗

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