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

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. METHODS: In th...

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Detalles Bibliográficos
Autores principales:	Liang, Huanhuan, Li, Niu, Yao, Ru‐en, Yu, Tingting, Ding, Lixia, Chen, Jing, Wang, Jian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606217/ https://www.ncbi.nlm.nih.gov/pubmed/34545712 http://dx.doi.org/10.1002/mgg3.1815

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