Non-coding Region Variants Upstream of MEF2C Cause Severe Developmental Disorder Through Three Distinct Loss-of-function Mechanisms
Caroline F. Wright,Nicholas M. Quaife,Laura Ramos-Hernandez,Petr Danecek,Matteo P. Ferla,Kaitlin E. Samocha,Joanna Kaplanis,Eugene J. Gardner,Ruth Y. Eberhardt,Katherine R. Chao,Konrad J. Karczewski,Joannella Morales,Giuseppe Gallone,Meena Balasubramanian,Siddharth Banka,Lianne Gompertz,Bronwyn Kerr,Amelia Kirby,Sally A. Lynch,Jenny E. Morton,Hailey Pinz,Francis H. Sansbury,Helen Stewart,Britton D. Zuccarelli,Stuart A. Cook,Jenny C. Taylor,Jane Juusola,Kyle Retterer,Helen Firth,Matthew E. Hurles,Enrique Lara-Pezzi,Paul J. R. Barton,Nicola Whiffin AMERICAN JOURNAL OF HUMAN GENETICS（2021）
Key words
developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants
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