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Article

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

American journal of medical genetics - 6 Aug 1998

Young T L, Woods M O, Parfrey P S, Green J S, O'Leary E, Hefferton D, Davidson W S

Abstract excerpt

There are at least five distinct Bardet-Biedl syndrome (BBS) loci, four of which have been mapped: 11q (BBS1), 16q (BBS2), 3p (BBS3), and 15q (BBS4). A comparative study of the three Arab-Bedouin kindreds used to map the BBS2, BBS3, and BBS4 loci suggests that the variability in the number and severity of clinical manifestations, particularly the pattern of polydactyly, reflects chromosome-specific subtypes of...

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Source

Identifiers

PMID: 9714014
DOI: 10.1002/(sici)1096-8628(19980806)78:5<461::aid-ajmg12>3.0.co;2-d

Genes

BBS2
BBS4
BBS1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.PMID 9714014Read ↗

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