학술논문
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Document Type
Article
Author
Harms, F.L.; Hempel, M.; Bierhals, T.; Kutsche, K.; Dingemans, A.J.M.; Pfundt, R.; de Vries, B.B.A.; Casar, C.; Müller, C.; Niermeijer, J.-M.F.; Fischer, J.; Jahn, A.; Hübner, C.; Majore, S.; Agolini, E.; Novelli, A.; van der Smagt, J.; Ernst, R.; van Binsbergen, E.; Mancini, G.M.S.; van Slegtenhorst, M.; Barakat, T.S.; Wakeling, E.L.; Kamath, A.; Downie, L.; White, S.M.; Pais, L.
Source
In: Genetics in Medicine . (Genetics in Medicine, October 2023, 25(10))
Subject
Language
English
ISSN
15300366
10983600
10983600