Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

Marcello Scala, Kamal Khan, Claire Beneteau, Rachel G. Fox, Sandra von Hardenberg, Ayaz Khan, Madeleine Joubert, Lorraine Fievet, Marie Musquer, Claudine Le Vaillant, Julie Korda Holsclaw, Derek Lim, Ann-Cathrine Berking, Andrea Accogli, Thea Giacomini, Lino Nobili, Pasquale Striano, Federico Zara, Annalaura Torella, Vincenzo NigroBenjamin Cogné, Max R. Salick, Ajamete Kaykas, Kevin Eggan, Valeria Capra, Stéphane Bézieau, Erica E. Davis*, Michael F. Wells*

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Medicine & Life Sciences