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Diaphyseal and Metaphyseal Modeling Defects—Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia

Background: Diaphyseal and metaphyseal modeling defects lead to severe changes in bone mass and shape, which are common features in osteoporosis that linked to non-vertebral fractures. Original mechanism of diaphyseal and metaphyseal modeling defects has proved elusive. Studying rare syndromes can e...

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Detalles Bibliográficos
Autores principales: Hao, Yun, Wang, Xiao-Lin, Xiao, Jun, Jiao, Chun-Lei, Meng, Xin-Yao, Guo, Jia-Chao, Shao, Jing-Fan, Feng, Jie-Xiong, He, Jin-Peng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416243/
https://www.ncbi.nlm.nih.gov/pubmed/34484289
http://dx.doi.org/10.3389/fgene.2021.684905