Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

Abstract Background Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by biallelic variants of the TCIRG1 and CLCN7 genes. Method...

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Auteurs principaux: Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang
Format: article
Langue:EN
Publié: Wiley 2021
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Accès en ligne:https://doaj.org/article/b081c2e76e334c6e83a804ab1ec8098b
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