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Article

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

BMC medical genetics - 19 Jul 2017

Yang Lin, Li Zixiu, Mei Mei, Fan Xiaomei, Zhan Guodong, Wang Huijun, Huang Guoying, Wang Mingbang, Tian Weidong, Zhou Wenhao

Abstract excerpt

BACKGROUND: Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure. CASE PRESENTATION: A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and...

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Identifiers

PMID: 28724398
DOI: 10.1186/s12881-017-0418-3
PMCID: PMC5518093

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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