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A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis

Osteopetrosis is a genetic condition of the skeleton characterized by increased bone density caused by osteoclast formation and function defects. Osteopetrosis is inherited in the form of autosomal dominant and autosomal recessive manner. We report autosomal recessive osteopetrosis (ARO; OMIM 611490...

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Detalles Bibliográficos
Autores principales:	Wang, Xia, Wang, Yingcan, Xu, Ting, Fan, Yanjie, Ding, Yifeng, Qian, Jihong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10165073/ https://www.ncbi.nlm.nih.gov/pubmed/37168803 http://dx.doi.org/10.3389/fped.2023.978879

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