Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study

BACKGROUND: Autosomal dominant osteopetrosis II (ADO II, MIM166600) is a sclerosing bone disorder caused by CLCN7 mutation. The main clinical characteristics include minor trauma-related fracture and hip osteoarthritis, whereas cranial nerve palsy and bone marrow failure rarely develop. Although it...

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Detalles Bibliográficos
Autores principales: Wang, Ziyuan, Li, Xiang, Wang, Ya, Fu, Wenzhen, Liu, Yujuan, Zhang, Zhenlin, Wang, Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8970046/
https://www.ncbi.nlm.nih.gov/pubmed/35370969
http://dx.doi.org/10.3389/fendo.2022.819641

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8970046/
https://www.ncbi.nlm.nih.gov/pubmed/35370969
http://dx.doi.org/10.3389/fendo.2022.819641

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