Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatmen...

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Detalles Bibliográficos
Autores principales: Alías, Laura, López de Heredia, Miguel, Luna, Sabina, Clivillé, Núria, González-Quereda, Lídia, Gallano, Pía, de Juan, Júlia, Pujol, Albert, Diez, Santiago, Boronat, Susana, Orús, César, Lasa, Adriana, Venegas, María del Prado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623256/
https://www.ncbi.nlm.nih.gov/pubmed/36330437
http://dx.doi.org/10.3389/fgene.2022.998898

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