Haneen Nuairat

Intrafamilial phenotypic variability in pediatric Wolfram syndrome associated with a homozygous WFS1 p.(Tyr669Ter) variant: a Palestinian family case series

Wolfram syndrome is a rare, progressive multisystem disorder most commonly caused by biallelic pathogenic variants in WFS1 . It is classically characterized by early-onset diabetes mellitus and optic atrophy, with variable auditory, urinary, renal, endocrine, and neurological inv...