Article
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Genes - 28 Apr 2021
Plassche Stijn van de, Brouwer Arjan Pm de
Abstract excerpt
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. Recently, female patients with de novo missense variants and de novo protein truncating variants in MED12 were described, resulting in a clinical spectrum...
Topics
Join the communities discussing this publication.