Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities-Reference-Cited by-同舟云学术

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

Published:2024-04 Issue:4 Volume:26 Page:101057
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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.^ORCID

Funder

National Institute of Mental Health

National Institute of Child Health and Human Development

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Ministero della Salute

National Institutes of Health

Publisher

Elsevier BV

Subject

Genetics (clinical)

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