Kati Kämpjärvi

A MORC2 Variant Associated With Severe Intellectual Disability and Unusual Phenotype

The microrchidia CW-type zinc finger protein 2 (MORC2) gene encodes an epigenetic regulator, variants in which are often associated with Charcot-Tooth-Marie (CMT) disease type 2Z. In recent years, notable phenotypic variation has been identified in patients with different MORC2 v...