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Article

Multiple increased osteoclast functions in individuals with neurofibromatosis type 1

4 Apr 2011

Abstract excerpt

Skeletal abnormalities including scoliosis, tibial dysplasia, sphenoid wing dysplasia, and decreased bone mineral density (BMD) are associated with neurofibromatosis type 1 (NF1). We report the cellular phenotype of NF1 human-derived osteoclasts and compare the in vitro findings with the clinical phenotype. Functional characteristics (e.g., osteoclast formation, migration, adhesion, resorptive capacity) and...

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PMID: 21465658
DOI: 10.1002/ajmg.a.33965

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