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Article

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2016

Laxer Caley, Rahman Sofia A, Sherif Maha, Tahir Sophia, Cayir Atilla, Demirbilek Huseyin, Hussain Khalid

Abstract excerpt

BACKGROUND: Alström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (ALMS1) gene located at 2p13.1. METHODS: In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of...

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Identifiers

PMID: 26910739
DOI: 10.1515/jpem-2015-0249

Genes

ALMS1

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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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