Article
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Genes - 12 Dec 2024
Grzybowska-Adamowicz Julia, Gadzalska Karolina, Jakiel Paulina, Juścińska Ewa, Gorządek Monika, Skoczylas Sebastian, Płoszaj Tomasz, Jarosz-Chobot Przemysława, Kowalska Irina, Myśliwiec Małgorzata, Szadkowska Agnieszka, Zmysłowska Agnieszka
Abstract excerpt
Background:WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the WFS1 gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic...
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