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

ConclusionOur results indicate thatCNKSR2 nonsense variants in the C ‐terminal coding part can result in ID with seizures in female variant carriers.

Source: Molecular Genetics & Genomic Medicine - August 14, 2019 Category: Genetics & Stem Cells Authors: Daniel L. Polla, Harriet R. Saunders, Bert B. A. Vries, Hans Bokhoven, Arjan P. M. Brouwer Tags: CLINICAL REPORT Source Type: research