Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
-
Published:2023-11
Issue:11
Volume:110
Page:1919-1937
-
ISSN:0002-9297
-
Container-title:The American Journal of Human Genetics
-
language:en
-
Short-container-title:The American Journal of Human Genetics
Author:
Nil Zelha, Deshwar Ashish R., Huang Yan, Barish Scott, Zhang Xi, Choufani Sanaa, Le Quesne Stabej Polona, Hayes Ian, Yap Patrick, Haldeman-Englert Chad, Wilson Carolyn, Prescott Trine, Tveten Kristian, Vøllo Arve, Haynes Devon, Wheeler Patricia G., Zon Jessica, Cytrynbaum Cheryl, Jobling Rebekah, Blyth Moira, Banka Siddharth, Afenjar Alexandra, Mignot Cyril, Robin-Renaldo Florence, Keren Boris, Kanca Oguz, Mao Xiao, Wegner Daniel J., Sisco Kathleen, Shinawi Marwan, Wangler Michael F., Weksberg Rosanna, Yamamoto Shinya, Costain GregoryORCID, Bellen Hugo J.
Subject
Genetics (clinical),Genetics
|
|