<i>MED12</i>-Related (Neuro)Developmental Disorders: A Question of Causality

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 miss...

Full description

Bibliographic Details
Main Authors: Stijn R. van de Plassche, Arjan P. M. de Brouwer
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/12/5/663