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Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations

Mutations of filamin B (FLNB) gene can lead to a spectrum of autosomal skeletal malformations including spondylocarpotarsal syndrome (SCT), Larsen syndrome (LRS), type I atelosteogenesis (AO1), type III atelosteogenesis (AO3), and boomerang dysplasia (BD). Among them, LRS is milder while BD causes a...

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Detalles Bibliográficos
Autores principales: Wu, Huixiao, Wang, Yanzhou, Chen, Xinyu, Yao, Yangyang, Zhao, Wanyi, Fang, Li, Sun, Xiaoqing, Wang, Ning, Jiang, Jie, Gao, Ling, Zhao, Jiajun, Xu, Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9273461/
https://www.ncbi.nlm.nih.gov/pubmed/35832491
http://dx.doi.org/10.1155/2022/8956636