Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability.

Po-Ming WuWen-Hao YuChi-Wu ChiangChen-Yu WuJia-Shing ChenYi-Fang Tu

Published in: Neurology. Genetics (2021)

We report the clinical, molecular genetic, and pathologic features in patients with novel variations of KDM5C. The variability of the clinical phenotype in addition to an ID may associate with altered particular parts of KDM5C.

Keyphrases

intellectual disability
autism spectrum disorder
genome wide
copy number
squamous cell carcinoma
gene expression
lymph node
rectal cancer