Article
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.
American journal of medical genetics. Part A - 1 Oct 2015
Kaplan Frederick S, Kobori Joyce A, Orellana Carmen, Calvo Inmaculada, Rosello Monica, Martinez Francisco, Lopez Berta, Xu Meiqi, Pignolo Robert J, Shore Eileen M, Groppe Jay C
Abstract excerpt
Severe variants of fibrodysplasia ossificans progressiva (FOP) affect <2% of all FOP patients worldwide, but provide an unprecedented opportunity to probe the phenotype-genotype relationships that propel the pathology of this disabling disease. We evaluated two unrelated children who had severe reduction deficits of the hands and feet with absence of nails, progressive heterotopic ossification, hypoplasia of the...
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