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A Novel Compound Heterozygous Mutation of the CLCN7 Gene is Associated with Autosomal Recessive Osteopetrosis

Xia Wang,Yingcan Wang, Ting Xu,Yanjie Fan,Yifeng Ding,Jihong Qian

Frontiers in Pediatrics（2023）

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Key words
autosomal recessive osteopetrosis (ARO),chloride channel 7 (CLCN7),leukocytosis,neurological impairment,genotype-phenotype correlation
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