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Article

Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

Ophthalmic genetics - 1 Sept 2012

Billingsley Gail, Vincent Ajoy, Deveault Catherine, Héon Elise

Abstract excerpt

PURPOSE: To assess for SDCCAG8 mutations in Bardet-Biedl syndrome (BBS) subjects with renal involvement and no polydactyly, and to describe phenotypic characteristics of SDCCAG8-related disease. MATERIAL AND METHODS: Five patients (from 4 pedigrees) with clinical diagnosis of BBS, who had retinal and renal involvement and no polydactyly, were assessed. Sequence analysis of SDCCAG8 was undertaken and a detailed...

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Source

Identifiers

PMID: 22626039
DOI: 10.3109/13816810.2012.689411

Genes

SDCCAG8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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