Ontology highlight
ABSTRACT:
SUBMITTER: Haghighi A
PROVIDER: S-EPMC3573194 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Haghighi Amirreza A Haghighi Alireza A Setoodeh Aria A Saleh-Gohari Nasrollah N Astuti Dewi D Barrett Timothy G TG
European journal of human genetics : EJHG 20120711 3
Wolfram syndrome (WFS) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and optic atrophy. We studied clinical features and the molecular basis of severe WFS (neurodegenerative complications) in two consanguineous families from Iran. A clinical and molecular genetic investigation was performed in the affected and healthy members of two families. The clinical diagnosis of WFS was confirmed by the existence of diabetes mellitus and optic atrophy in the ...[more]