Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.

doi:10.1007/s004390050887

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Article

Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.

Human genetics - 1 Dec 1998

Macari F, Lautier C, Girardet A, Dadoun F, Darmon P, Dutour A, Renard E, Bouvagnet P, Claustres M, Oliver C, Grigorescu F

Abstract excerpt

Alström syndrome is a rare autosomal recessive disorder characterized by retinal pigment degeneration, neurogenic deafness, infantile obesity, hyperlipidemia, and non-insulin-dependent diabetes mellitus. While the disease-related gene remains unknown, studies of the genetic isolate of French Acad...

Topics

Abnormalities, Multiple
Acanthosis Nigricans
Africa, Northern
Chromosome Mapping
Chromosomes, Human, Pair 2
Consanguinity
Diabetes Mellitus, Type 2
Female
France
Genetic Linkage
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hearing Loss, Sensorineural

Humans

Insulin Resistance

Male

Pedigree

Retinal Degeneration

Syndrome

Source

Open in PubMed

Identifiers

PMID: 9921899
DOI: 10.1007/s004390050887

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9921899-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.PMID 9921899Read ↗

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