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

Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relati...

Source: BMC Neurology - September 16, 2021 Category: Neurology Authors: Natalie C. Lippa, Subit Barua, Vimla Aggarwal, Elaine Pereira and Jennifer M. Bain Tags: Case report Source Type: research