학술논문
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Document Type
Article
Author
Lecoquierre, F.; Duffourd, Y.; Moutton, S.; Tran Mau-Them, F.; Philippe, C.; Thauvin, C.; Faivre, L.; Vitobello, A.; Punt, A.M.; Wallaard, I.; Verhagen, R.; Brooks, A.S.; van Slegtenhorst, M.A.; Distel, B.; Elgersma, Y.; Ebstein, F.; Studencka-Turski, M.; Krüger, E.; Dean, J.; Tennant, S.; Jurgens, J.A.; Barry, B.J.; Chan, W.-M.; Engle, E.C.; England, E.M.; Martinez Ojeda, M.; Robson, C.D.; Morrow, M.; Innes, A.M.; Lamont, R.; Sanderson, M.
Source
In: Genetics in Medicine . (Genetics in Medicine, June 2024, 26(6))
Subject
Language
English
ISSN
15300366
10983600
10983600