학술논문
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
Document Type
Article
Author
Scala, M.; Accogli, A.; Giacomini, T.; Nobili, L.; Striano, P.; Zara, F.; Capra, V.; Khan, K.; Khan, A.; Davis, E.E.; Beneteau, C.; Cogné, B.; Bézieau, S.; Joubert, M.; Musquer, M.; Fox, R.G.; Wells, M.F.; von Hardenberg, S.; Berking, A.-C.; Fievet, L.; Holsclaw, J.K.; Le Vaillant, C.; Lim, D.; Torella, A.; Nigro, V.; Salick, M.R.; Kaykas, A.; Eggan, K.
Source
In: Genetics in Medicine . (Genetics in Medicine, April 2024, 26(4))
Subject
Language
English
ISSN
15300366
10983600
10983600