Associated Papers
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
39707601 (PubMed )
Supplement: supplement_1.xlsx › Table2
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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