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A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series

9 Jan 2013

Abstract excerpt

INTRODUCTION: Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or malfunction of osteoclasts is found to be strongly associated with the disease evolution. Currently, four clinically distinct forms of the disease have been recognized: the infantile autosomal recessive osteopetrosis, the malignant and the intermediate forms, and autosomal dominant...

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PMID: 23302420
DOI: 10.1186/1752-1947-7-7

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