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 |
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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 |
Externí odkaz: |