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-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.
Higa LA et al.
Bmc Medical Genomics, 2021
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