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The role of WNT1 mutant variant (WNT1(c.677C>T)) in osteogenesis imperfecta

Osteogenesis imperfecta (OI), also known as “brittle bone disease,” is a rare inherited genetic disorder characterized by bone fragility and often associated with short stature. The mutation in WNT1 causes autosomal recessive OI (AR‐OI) due to the key role of WNT/β‐catenin signaling in bone formatio...

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Detalles Bibliográficos
Autores principales: Zhang, Bashan, Li, Rong, Wang, Wenfeng, Zhou, Xueming, Luo, Beijing, Zhu, Zinian, Zhang, Xibo, Ding, Aijiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590185/
https://www.ncbi.nlm.nih.gov/pubmed/32757296
http://dx.doi.org/10.1111/ahg.12399