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Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis - Journal of Human Genetics

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Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis - Journal of Human Genetics

Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder caused by impaired osteoclast activity. In this study, we describe a 4-year-old boy with increased bone density due to osteopetrosis, autosomal recessive 8. Using genome sequencing, we identified a large deletion in the 5′-untranslated region (UTR) of SNX10 (sorting nexin 10), where the regulatory region of this gene is located.

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genome sequencing genetic osteopetrosis autosomal recessive deletion science biology genetics

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Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis - Journal of Human Genetics

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Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis - Journal of Human Genetics

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