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Article

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

Journal of medical genetics - 1 Feb 1997

Beales P L, Warner A M, Hitman G A, Thakker R, Flinter F A

Abstract excerpt

The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. It is heterogeneous with at least four gene loci (BBS1-4) having been mapped to date. We have studied 18 multiply affected families noting the presence of both major and minor manifestations. Using a fluorescently based PCR...

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Source

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Identifiers

PMID: 9039982
DOI: 10.1136/jmg.34.2.92
PMCID: PMC1050859

Genes

BBS1
BBS2
BBS4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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

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