Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
Resource Type
Article
Authors
Scala, Marcello ; Khan, Kamal ; Beneteau, Claire ; Fox, Rachel G. ; von Hardenberg, Sandra ; Khan, Ayaz ; Joubert, Madeleine ; Fievet, Lorraine ; Musquer, Marie ; Le Vaillant, Claudine ; Holsclaw, Julie Korda ; Lim, Derek ; Berking, Ann-Cathrine ; Accogli, Andrea ; Giacomini, Thea ; Nobili, Lino ; Striano, Pasquale ; Zara, Federico ; Torella, Annalaura ; Nigro, Vincenzo ; Cogné, Benjamin ; Salick, Max R. ; Kaykas, Ajamete ; Eggan, Kevin ; Capra, Valeria ; Bézieau, Stéphane ; Davis, Erica E. ; Wells, Michael F.
Source
In Genetics in Medicine April 2024 26(4)
Subject
Language
ISSN
1098-3600