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Article

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.

Journal of medical genetics - 1 Aug 2015

Castro-Sánchez Sheila, Álvarez-Satta María, Cortón Marta, Guillén Encarna, Ayuso Carmen, Valverde Diana

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy that displays retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities as primary clinical features. To date, 19 causative genes (BBS1-19) have been involved, whose mutations would explain over 80% of patients. The overlapping phenotypes among ciliopathies, in addition to the...

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Source

Identifiers

PMID: 26082521
DOI: 10.1136/jmedgenet-2015-103099

Genes

BBS1
BBS10
BBS12

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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