A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.

Natalie C LippaSubit BaruaVimla AggarwalElaine PereiraJennifer M Bain

Published in: BMC neurology (2021)

This case report provides evidence for an emerging and phenotypic variability that adds to the literature of the role of KDM5C in females with neurodevelopmental disorders as well as movement disorders.

Keyphrases

case report
systematic review
early onset