P334: Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion

Autor: Daniah Albokhari, Meral Gunay-Aygun, Julie Hoover-Fong, May Christine Malicdan
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Genetics in Medicine Open, Vol 2, Iss , Pp 101228- (2024)
Druh dokumentu: article
ISSN: 2949-7744
DOI: 10.1016/j.gimo.2024.101228
Databáze: Directory of Open Access Journals