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Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome.

Gene - 15 Feb 2020

Torkamandi Shahram, Rezaei Somaye, Mirfakhraei Reza, Askari Masomeh, Piltan Samira, Gholami Milad

Abstract excerpt

Alström syndrome (AS) is a rare monogenic multi-system ciliopathy disorder with cardinal features, including cone-rod dystrophy, sensory neural hearing loss, metabolic dysfunctions and multiple organ failure caused by bi-allelic mutations in a centrosomal basal body protein-coding gene known as ALMS1. This study aimed to identify pathogenic mutations in a consanguineous Iranian family with AS. Next-generation...

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Identifiers

PMID: 31669637
DOI: 10.1016/j.gene.2019.144228

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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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