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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Autores principales: | Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Wiley
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/b081c2e76e334c6e83a804ab1ec8098b |
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