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Article

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

European journal of human genetics : EJHG - 1 Feb 2007

White Dominic R A, Ganesh Anuradha, Nishimura Darryl, Rattenberry Eleanor, Ahmed Shakeel, Smith Ursula M, Pasha Shanaz, Raeburn Sandy, Trembath Richard C, Rajab Anna, Macdonald Fiona, Banin Eyal, Stone Edwin M, Johnson Colin A, Sheffield Val C, Maher Eamonn R

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure. In order to identify novel BBS loci we undertook autozygosity mapping studies using high-density SNP microarrays in consanguineous kindreds. We mapped a BBS locus to a 10.1 Mb region at 12q15-q21.2 in a...

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Source

Identifiers

PMID: 17106446
DOI: 10.1038/sj.ejhg.5201736

Genes

BBS10

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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