Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
CACHD1基因的双等位基因功能缺失变异会导致一种新型神经发育综合征，伴有面部畸形和多系统先天性异常。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2023.101057
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
