Associated Papers
Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.
Katata Y et al.
Clinical Genetics, 2025
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Ghasemi MR et al.
American Journal of Medical Genetics. Part A, 2025
Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.
Lou Y et al.
Molecular Genetics & Genomic Medicine, 2024
Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders.
Ito H et al.
Cells, 2022
Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome.
Erata E et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.
Kang Q et al.
Medicine, 2021
Select a paper to view details