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

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

BackgroundAutosomal 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 is...

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Bibliographic Details
Main Authors: Ziyuan Wang, Xiang Li, Ya Wang, Wenzhen Fu, Yujuan Liu, Zhenlin Zhang, Chun Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Endocrinology
Subjects:
CLCN7
osteopetrosis
follow-up
genotype
phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.819641/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2022.819641/full

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