A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis

Abstract Background Weyers acrofacial dysostosis (WAD) is a rare autosomal dominant ciliopathy caused by heterozygous pathogenic variants in the EVC2 gene. The classic phenotype includes short stature, dental anomalies, and nail dysplasia. To date, all reported causative variants are truncating muta...

Descripció completa

Dades bibliogràfiques

Autors principals:	Ai Chen, Wenwen Zhang, Pingping Long, Ximin Chen, Ayuan Zhang, Hui Zhu, Lan Zeng, Fu Xiong, Jin Wang, Shuyao Zhu, Ping Zhou
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2026-02-01
Col·lecció:	BMC Medical Genomics
Matèries:	Splice-site Minigene EVC2
Accés en línia:	https://doi.org/10.1186/s12920-026-02317-6
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!