Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486) causing severe Wolfram syndrome and first report of male fertility

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 molecu...

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