A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

BACKGROUND: Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in the N‐terminal protein coding part of CNKSR2 or with a delet...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Polla, Daniel L., Saunders, Harriet R., de Vries, Bert B. A., van Bokhoven, Hans, de Brouwer, Arjan P. M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Clinical Reports
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6785448/
https://ncbi.nlm.nih.gov/pubmed/31414730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.861
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