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, de Heredia, Miguel López, Urano, Fumihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9949199/
https://www.ncbi.nlm.nih.gov/pubmed/36824811
http://dx.doi.org/10.1101/2023.02.15.23284904
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