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Article

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

American journal of medical genetics. Part A - 1 Feb 2020

Rethanavelu Kavitha, Fung Jasmine L F, Chau Jeffrey F T, Pei Steven L C, Chung Claudia C Y, Mak Christopher C Y, Luk Ho M, Chung Brian H Y

Abstract excerpt

Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene. A total of 21 subjects with AS from 20 unrelated Chinese families were recruited. Our cohort consists of 9 females and 12 males, between 5 months and 20 years old. The first symptom(s) appeared between 3 and 24 months. They were recorded to be either visual impairments (83%) or dilated...

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PMID: 31755649
DOI: 10.1002/ajmg.a.61412

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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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