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Wolfram Syndrome 1: From Genetics to Therapy

Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). The clinical picture may be complicated by other symptoms...

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Detalles Bibliográficos
Autores principales: Rigoli, Luciana, Caruso, Valerio, Salzano, Giuseppina, Lombardo, Fortunato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949990/
https://www.ncbi.nlm.nih.gov/pubmed/35328914
http://dx.doi.org/10.3390/ijerph19063225