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
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Case report: Phenotype expansion and analysis of TRIO and CNKSR2 variations.
Liu Y et al.
Frontiers in Neurology, 2022
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