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Article

Alström syndrome and cecal volvulus in 2 siblings.

The American journal of the medical sciences - 1 May 2009

Khoo Eric Y H, Risley James, Zaitoun Abed M, El-Sheikh Mohamed, Paisey Richard B, Acheson Austin G, Mansell Peter

Abstract excerpt

Alström syndrome (ALMS1, MIM 203800) is a rare, autosomal recessively inherited monogenic condition caused by mutations in the ALMS1 gene located on the short arm of chromosome 2. ALMS1 is a multisystem condition characterized by childhood onset of blindness, dilated cardiomyopathy, sensorineural hearing loss, renal failure, fibrotic lung disease, and metabolic abnormalities, including hypertriglyceridemia, liver...

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Source

Identifiers

PMID: 19440062
DOI: 10.1097/MAJ.0b013e3181926594

Genes

ALMS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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