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Article

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

American journal of medical genetics - 6 Nov 1995

Carmi R, Elbedour K, Stone E M, Sheffield V C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical...

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Identifiers

PMID: 8588586
DOI: 10.1002/ajmg.1320590216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.Semantic proximity Read ↗

Exploring the molecular basis of Bardet-Biedl syndrome.Semantic proximity Read ↗

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