Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

AIMS: Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its “classic” form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafness (D) are the main features...

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Detalles Bibliográficos
Autores principales: Frontino, Giulio, Di Tonno, Raffaella, Stancampiano, Marianna Rita, Arrigoni, Francesca, Rigamonti, Andrea, Morotti, Elisa, Canarutto, Daniele, Bonfanti, Riccardo, Russo, Gianni, Barera, Graziano, Piemonti, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294676/
https://www.ncbi.nlm.nih.gov/pubmed/37383390
http://dx.doi.org/10.3389/fendo.2023.1155644

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