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Article

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.

BMC ophthalmology - 26 Sept 2022

Cheng Wan-Yu, Ma Mei-Jiao, Yuan Shi-Qin, Qi Xiao-Long, Rong Wei-Ning, Sheng Xun-Lun

Abstract excerpt

PURPOSE: Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS. Herein, we used whole-exome sequencing (WES) to determine the genetic causes and characterize the clinical features of three affected patients in two Chinese families with...

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Identifiers

PMID: 36162988
DOI: 10.1186/s12886-022-02597-3
PMCID: PMC9511775

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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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