Items tagged “genetic mutation”
3 results found
Case
Labrune syndrome
Published
19 Jan 2020
86% complete
MRI
Article
Wolfram syndrome (type one)
Wolfram syndrome type one, also known as DIDMOAD, is a disease caused by an autosomal recessive genetic trait, caused by mutations in the WFS1 gene, with incomplete penetrance.
Clinical presentation
The syndrome presents initially with type 1 diabetes mellitus, followed by optic atrophy, diabe...
Case
CADASIL
Published
19 Apr 2023
95% complete
MRI
CT