Wolfram Syndrome in a Family with Variable Expression

Wolfram Syndrome in a Family with Variable Expression

Wolfram syndrome is a rare neurodegenerative disorder with autosomal recessive inheritance. The main characteristic features of this disorder are diabetes mellitus and optic atrophy. However, diabetes insipidus, sensorineural deafness, renal tract and neurologic abnormalities are seen in majority of...

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Bibliographic Details
Main Authors: Abdurrahman Kadayifci, Yalcin Kepekci, Yavuz Coskun, Ying Huang
Format: Article
Language:English
Published: Karolinum Press 2001-01-01
Series:Acta Medica
Subjects:
Wolfram syndrome
DIDMOAD syndrome
Heterozygote carriers
Mutation
Online Access:https://actamedica.lfhk.cuni.cz/44/3/0115/

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