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

Abstract 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...

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Principais autores: Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh, Mohammad Reza Noori-Daloii
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2020-01-01
coleção:BMC Medical Genetics
Assuntos:
Wolfram syndrome
WFS1
Gene
Iran
Diabetes
Acesso em linha:https://doi.org/10.1186/s12881-020-0950-4
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