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Article

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.

Internal medicine (Tokyo, Japan) - 1 Dec 2021

Wang Chunmei, Luo Xiaona, Wang Yilin, Liu Zhao, Wu Shengnan, Wang Simei, Lan Xiaoping, Xu Quanmei, Xu Wuhen, Yuan Fang, Wang Anqi, Zeng Fanyi, Jia Jia, Chen Yucai

Abstract excerpt

Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism. The diagnosis is thus challenging for patients without this characteristic set of clinical symptoms. We...

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Identifiers

PMID: 34148947
DOI: 10.2169/internalmedicine.6467-20
PMCID: PMC8710367

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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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