Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report
Abstract Background Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarit...
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Format: | Book |
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BMC,
2018-02-01T00:00:00Z.
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A1234.567 |
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