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Biallelic loss-of-function variants in CACHD1 cause a novel..:
Scala, Marcello
;
Khan, Kamal
;
Beneteau, Claire
...
Genetics in Medicine. 26 (2024) 4 - p. 101057 , 2024
Link:
https://doi.org/10.1016/j.gim.2023.101057
RT Journal T1
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2023.101057&Exemplar=1&LAN=DE A1 Scala, Marcello A1 Khan, Kamal A1 Beneteau, Claire A1 Fox, Rachel G. A1 von Hardenberg, Sandra A1 Khan, Ayaz A1 Joubert, Madeleine A1 Fievet, Lorraine A1 Musquer, Marie A1 Le Vaillant, Claudine A1 Holsclaw, Julie Korda A1 Lim, Derek A1 Berking, Ann-Cathrine A1 Accogli, Andrea A1 Giacomini, Thea A1 Nobili, Lino A1 Striano, Pasquale A1 Zara, Federico A1 Torella, Annalaura A1 Nigro, Vincenzo A1 Cogné, Benjamin A1 Salick, Max R. A1 Kaykas, Ajamete A1 Eggan, Kevin A1 Capra, Valeria A1 Bézieau, Stéphane A1 Davis, Erica E. A1 Wells, Michael F. PB Elsevier BV YR 2024 SN 1098-3600 JF Genetics in Medicine VO 26 IS 4 SP 101057 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2023.101057 DO https://doi.org/10.1016/j.gim.2023.101057 SF ELIB - SuUB Bremen
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