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The phenotype and genotype of fibrodysplasia ossificans progressiva in China: A report of 72 cases

17 Sept 2013

Abstract excerpt

Fibrodysplasia ossificans progressiva, an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic condition of skeletal metamorphosis in humans. We studied 72 patients with FOP in China and analyzed their phenotypes and genotypes comprising the world's largest ethnically homogeneous population of FOP patients. Ninety-nine percent...

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PMID: 24051199
DOI: 10.1016/j.bone.2013.09.002

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