Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis

CONTEXT: Mutations in WNT1 can cause rare inherited disorders such as osteogenesis imperfecta (OI) and early-onset osteoporosis (EOOP). Owing to its rarity, the clinical characteristics and pathogenic mechanism of WNT1 mutations remain unclear. OBJECTIVE: We aimed to explore the phenotypic and genot...

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Detalles Bibliográficos
Autores principales: Hu, Jing, Lin, Xiaoyun, Gao, Peng, Zhang, Qian, Zhou, Bingna, Wang, Ou, Jiang, Yan, Xia, Weibo, Xing, Xiaoping, Li, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Clinical Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10271228/
https://www.ncbi.nlm.nih.gov/pubmed/36595228
http://dx.doi.org/10.1210/clinem/dgac752

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10271228/
https://www.ncbi.nlm.nih.gov/pubmed/36595228
http://dx.doi.org/10.1210/clinem/dgac752

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