Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1

ABSTRACT Background SOST encodes a secreted glycoprotein that is similar in sequence to the differential screening‐selected gene aberrative in neuroblastoma (DAN) family of bone morphogenetic protein (BMP) antagonists. Pathogenic variants in the SOST gene result in sclerosteosis, van Buchem disease...

Descripció completa

Dades bibliogràfiques

Autors principals:	Yufan Guo, Xintao Wu, Yuting Jin, Yu Gu, Yuting Lou, Pu Miao, Ye Wang, Bijun Zhang, Xueting Lin, Chudi Zhang, Jianhua Feng
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2025-07-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	abnormal facial expressions facial numbness genetic sclerosteosis 1 SOST
Accés en línia:	https://doi.org/10.1002/mgg3.70109
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!