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Article

Alström syndrome.

European journal of human genetics : EJHG - 1 Dec 2007

Marshall Jan D, Beck Sebastian, Maffei Pietro, Naggert Jürgen K

Abstract excerpt

Alström Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. Alström Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, sensorineural hearing loss, obesity, insulin resistance with hyperinsulinemia, and type 2 diabetes mellitus. Very high incidences of additional disease...

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Source

Identifiers

PMID: 17940554
DOI: 10.1038/sj.ejhg.5201933

Genes

ALMS1

Provenance

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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