De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Dong Li(Nantong University), Elizabeth Bhoj(Children's Hospital of Philadelphia), Tasja Scholz(Universität Hamburg), David Cassiman, Penny Chow(University of Washington), Philipp Deindl(Universität Hamburg), Alanna Strong(Children's Hospital of Philadelphia), Samantha A. Schrier Vergano(Children's Hospital of The King's Daughters), Tian-Cheng Wang(Chinese Academy of Sciences), Jaak Jaeken(KU Leuven), Natália D. Linhares(Northwestern University), Arupa Ganguly(University of Pennsylvania), Håkon Håkonarson(Children's Hospital of Philadelphia), Eugênia Ribeiro Valadares(Universidade Federal de Minas Gerais), Maria Van Dyck(KU Leuven), Kaitlyn M Shen(Children's Hospital of Philadelphia), Sérgio D.J. Pena(Universidade Federal de Minas Gerais), Elaine H. Zackai(Children's Hospital of Philadelphia), Anne Hing(University of Washington), Tatjana Bierhals(Universität Hamburg)
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