학술논문
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Document Type
Article
Author
Choufani, S.; Cytrynbaum, C.; Jangjoo, M.; Weksberg, R.; McNiven, V.; Adam, M.P.; Bjornsson, H.T.; Harris, J.; Dyment, D.A.; Graham, G.E.; Nezarati, M.M.; Aul, R.B.; Castiglioni, C.; Breckpot, J.; Devriendt, K.; Stewart, H.; Banos-Pinero, B.; Mehta, S.; Sandford, R.; Dunn, C.; Mathevet, R.; van Maldergem, L.; Piard, J.; Brischoux-Boucher, E.; Vitobello, A.; Faivre, L.; Bournez, M.; Tran-Mau, F.; Maystadt, I.; Fernández-Jaén, A.; Alvarez, S.; García-Prieto, I.D.; Alkuraya, F.S.; Alsaif, H.S.; Rahbeeni, Z.; El-Akouri, K.; Al-Mureikhi, M.; Spillmann, R.C.; Shashi, V.; Sanchez-Lara, P.A.; Graham, J.M.; Roberts, A.; Chorin, O.; Evrony, G.D.; Kraatari-Tiri, M.; Dudding-Byth, T.; Richardson, A.; Hunt, D.; Hamilton, L.; Dyack, S.; Mendelsohn, B.A.; Rodríguez, N.; Sánchez-Martínez, R.; Tenorio-Castaño, J.; Nevado, J.; Lapunzina, P.; Tirado, P.; Carminho Amaro Rodrigues, M.-T.; Quteineh, L.; Innes, A.M.; Au, P.Y.B.; Kline, A.D.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 October 2022, 109(10):1867-1884)
Subject
Language
English
ISSN
15376605
00029297
00029297