Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

BACKGROUND: Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic hearing...

Descripción completa

Detalles Bibliográficos
Autores principales: Sobhani, Maryam, Tabatabaiefar, Mohammad Amin, Ghafouri-Fard, Soudeh, Rajab, Asadollah, Hojjat, Asal, Kajbafzadeh, Abdol-Mohammad, Noori-Daloii, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961406/
https://www.ncbi.nlm.nih.gov/pubmed/31937257
http://dx.doi.org/10.1186/s12881-020-0950-4

Ejemplares similares

Ejemplares similares