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SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

1 Jun 2017

Abstract excerpt

Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from the county of Västerbotten in Northern Sweden. All afflicted individuals had an onset in early infancy with optic atrophy, and in four patients anemia was present at diagnosis....

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PMID: 28592808
DOI: 10.1038/s41598-017-02533-2

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