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Article

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Human molecular genetics - 1 Apr 2001

Nishimura D Y, Searby C C, Carmi R, Elbedour K, Van Maldergem L, Fulton A B, Lam B L, Powell B R, Swiderski R E, Bugge K E, Haider N B, Kwitek-Black A E, Ying L, Duhl D M, Gorman S W, Heon E, Iannaccone A, Bonneau D, Biesecker L G, Jacobson S G, Stone E M, Sheffield V C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The...

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Source

Identifiers

PMID: 11285252
DOI: 10.1093/hmg/10.8.865

Genes

BBS2

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).PMID 11285252Read ↗

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