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New variants of ALMS1 gene and familial Alström syndrome case series

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 v...

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Autors principals: Isabela Carvalho de Queiroz, Natália Carasek, Luiza Costa Villela Ferreira, Lucas Alves Teixeira Oliveira, Fernando Massa Correia, Thaís Gomes Abrahão Elias, Fayez Bahmad, Jr
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2024-05-01
Col·lecció:Brazilian Journal of Otorhinolaryngology
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Accés en línia:http://www.sciencedirect.com/science/article/pii/S180886942400017X
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