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Article

Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Molecular vision - 1 Jan 2013

Liang Xiaofang, Li Hui, Li Huajin, Xu Fei, Dong Fangtian, Sui Ruifang

Abstract excerpt

PURPOSE: Alström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients with AS. METHODS: Detailed ocular and laboratory...

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Source

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Identifiers

PMID: 24049434
PMCID: PMC3774572

Genes

ALMS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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