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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, hyperte...

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Share to Chromosomes, Human, Pair 16

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Source

Identifiers

PMID: 11285252
DOI: 10.1093/hmg/10.8.865

Genes

BBS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11285252-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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

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

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