Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Wright CF., Quaife NM., Ramos-Hernández L., Danecek P., Ferla MP., Samocha KE., Kaplanis J., Gardner EJ., Eberhardt RY., Chao KR., Karczewski KJ., Morales J., Gallone G., Balasubramanian M., Banka S., Gompertz L., Kerr B., Kirby A., Lynch SA., Morton JEV., Pinz H., Sansbury FH., Stewart H., Zuccarelli BD., Cook SA., Taylor JC., Juusola J., Retterer K., Firth HV., Hurles ME., Lara-Pezzi E., Barton PJR., Whiffin N.

DOI

10.1016/j.ajhg.2021.04.025

Type

Journal article

Journal

The American Journal of Human Genetics

Publisher

Elsevier BV

Publication Date

06/2021

Volume

108

Pages

1083 - 1094

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