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 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
Psychomotor development and attention problems caused by a splicing variant of CNKSR2.
Zhang Y et al.
Bmc Medical Genomics, 2020
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.
Polla DL et al.
Molecular Genetics & Genomic Medicine, 2019
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
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