Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Abstract Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogeneous disorders characterized by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in over 20 genes encoding ciliary proteins have been found to cause...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Human molecular genetics 2023-09, Vol.32 (18), p.2822-2831
Hauptverfasser: Bruel, Ange-Line, Ganga, Anil Kumar, Nosková, Lenka, Valenzuela, Irene, Martinovic, Jelena, Duffourd, Yannis, Zikánová, Marie, Majer, Filip, Kmoch, Stanislav, Mohler, Markéta, Sun, Jingbo, Sweeney, Lauren K, Martínez-Gil, Núria, Thauvin-Robinet, Christel, Breslow, David K
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!