Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders

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Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and phenotypic presentations of Wolfram syndrome which w...

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Detalles Bibliográficos
Autores principales: Lee, Evan M., Verma, Megha, Palaniappan, Nila, Pope, Emiko M., Lee, Sammie, Blacher, Lindsey, Neerumalla, Pooja, An, William, Campbell, Toko, Brown, Cris, Hurst, Stacy, Marshall, Bess, Hershey, Tamara, Nunes, Virginia, López de Heredia, Miguel, Urano, Fumihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10321297/
https://www.ncbi.nlm.nih.gov/pubmed/37415600
http://dx.doi.org/10.3389/fgene.2023.1198171
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