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Article

Infant Alstrom syndrome diagnosed by a new gene mutation: a case report.

The Journal of international medical research - 1 Jul 2023

Ye Yujiao, Wang Xianmin, Li Guixia, Xiao Xia, Ji Xuehong

Abstract excerpt

Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing. A 2-month-old male infant was admitted to Sichuan Provincial Maternity and Child Health Care Hospital on 30 May 2019 after "coughing for half a day and dyspnea for 2 hours". He was diagnosed with...

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Identifiers

PMID: 37439038
DOI: 10.1177/03000605231184100
PMCID: PMC10345921

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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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