Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome

Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome

Summary: CTNNB1 neurodevelopmental syndrome is a rare disorder caused by de novo heterozygous variants in the CTNNB1 gene encoding β-catenin. This study aimed to characterize genetic variants in individuals with CTNNB1 neurodevelopmental syndrome, systematically assess the spectrum of clinical pheno...

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Main Authors: Nina Žakelj, David Gosar, Špela Miroševič, Stephan J. Sanders, Alicia Ljungdahl, Sayeh Kohani, Shouhe Huang, Lok I Leong, Ying An, Miou-Jing Teo, Fiona Moultrie, Roman Jerala, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Leszek Lisowski, Andrea Perez-Iturralde, Jasna Oražem Mrak, Ho Yin Edwin Chan, Damjan Osredkar
Format: Article
Language:English
Published: Elsevier 2025-10-01
Series:HGG Advances
Subjects:
CTNNB1 neurodevelopmental syndrome
β-catenin
genotype
phenotype
genotype-phenotype correlations
developmental delay
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000867
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http://www.sciencedirect.com/science/article/pii/S2666247725000867

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