Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

BACKGROUND: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D). The phenotype of the disease has been associated with several mutations in the WFS1 gene, a nuclear g...

Descripción completa

Detalles Bibliográficos
Autores principales: Ghirardello, Stefano, Dusi, Elisa, Castiglione, Bianca, Fumagalli, Monica, Mosca, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422421/
https://www.ncbi.nlm.nih.gov/pubmed/25255707
http://dx.doi.org/10.1186/s13052-014-0076-4

Ejemplares similares

Ejemplares similares