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

• Κύριοι συγγραφείς: Maryam Sobhani (Συγγραφέας), Mohammad Amin Tabatabaiefar (Συγγραφέας), Soudeh Ghafouri-Fard (Συγγραφέας), Asadollah Rajab (Συγγραφέας), Asal Hojjat (Συγγραφέας), Abdol-Mohammad Kajbafzadeh (Συγγραφέας), Mohammad Reza Noori-Daloii (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2020-01-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

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...