A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity).

Shahram TorkamandiSomaye RezaeiReza Mirfakhraie Sahar BayatSamira PiltanMilad Gholami

Published in: Journal of clinical laboratory analysis (2020)

Because of the rarity and clinical heterogeneity of WFS, the molecular genetic assay is essential to confirm the diagnosis and management of the WFS patients.

Keyphrases

single cell
newly diagnosed
genome wide
ejection fraction
hearing loss
prognostic factors
gene expression
autism spectrum disorder
chronic kidney disease