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Article

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

Clinical genetics - 1 Feb 2015

Sathya Priya C, Sen P, Umashankar V, Gupta N, Kabra M, Kumaramanickavel G, Stoetzel C, Dollfus H, Sripriya S

Abstract excerpt

Bardet-Biedl syndrome (BBS), a ciliopathy disorder with pleiotropic effect manifests primarily as retinal degeneration along with renal insufficiency, polydactyly and obesity. In this study, we have performed homozygosity mapping using NspI 250K affymetrix gene chip followed by mutation screening of the candidate genes located in the homozygous blocks. These regions are prioritized based on the block length and...

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Source

Identifiers

PMID: 24400638
DOI: 10.1111/cge.12342

Genes

ALMS1
BBS2

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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