Article
A novel WFS1 variant associated with isolated congenital cataracts.
Cold Spring Harbor molecular case studies - 1 Feb 2023
Krutish Angela, Elmore James, Ilse Werner, Johnston Janine L, Hittel Dustin, Kerr Marina, Khan Aneal, Rockman-Greenberg Cheryl, Mhanni Aizeddin A
Abstract excerpt
Biallelic variants in the WFS1 gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of phenotypes, such as Wolfram-like syndrome or isolated features of Wolfram syndrome. In this case report, we present a male patient with a history of congenital cataracts and subjective complaints of muscle weakness. Clinical assessment demonstrated...
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