De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
- Resource Type
- Article
- Authors
- Harms, Frederike L.; Dingemans, Alexander J.M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Müller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Hübner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M.S.; van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B.A.; Kutsche, Kerstin
- Source
- In Genetics in Medicine July 2023
- Subject
- Language
- ISSN
- 1098-3600