Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV

Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV

CTNNB1, which encodes β-catenin, plays an essential role in the Wnt signaling pathway and regulates cellular homeostasis. Mutations in this gene can lead to neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). This study aimed to identify CTNNB1 mutations in two patients pr...

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Bibliographic Details
Main Authors: Eojin Lee, Ja Young Choi, Shin-Seung Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
neurodevelopmental disorder
spasticity
intellectual disability
β-catenin
Wnt signaling pathway
next-generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1502756/full
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