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Article

New variants of ALMS1 gene and familial Alström syndrome case series.

Brazilian journal of otorhinolaryngology - 1 Jan 2000

Queiroz Isabela Carvalho de, Carasek Natália, Ferreira Luiza Costa Villela, Oliveira Lucas Alves Teixeira, Correia Fernando Massa, Elias Thaís Gomes Abrahão, Bahmad Fayez

Abstract excerpt

OBJECTIVES: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome. REPORT: This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of...

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Identifiers

PMID: 38428329
DOI: 10.1016/j.bjorl.2024.101402
PMCID: PMC10912837

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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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