De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Genetics in Medicine, Published online: 27 November 2020; doi:10.1038/s41436-020-01031-7De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Source: Genetics in Medicine - November 27, 2020 Category: Genetics & Stem Cells Authors: Dong Li Alanna Strong Kaitlyn M. Shen David Cassiman Maria Van Dyck Natalia Duarte Linhares Eugenia Ribeiro Valadares Tiancheng Wang Sergio D. J. Pena Jaak Jaeken Samantha Vergano Elaine Zackai Anne Hing Penny Chow Arupa Ganguly Tasja Scholz Tatjana Bierh Source Type: research