Article
An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2012
Chakkalakal Salin A, Zhang Deyu, Culbert Andria L, Convente Michael R, Caron Robert J, Wright Alexander C, Maidment Andrew D A, Kaplan Frederick S, Shore Eileen M
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP; MIM #135100) is a debilitating genetic disorder of dysregulated cellular differentiation characterized by malformation of the great toes during embryonic skeletal development and by progressive heterotopic endochondral ossification postnatally. Patients with these classic clinical features of FOP have the identical heterozygous single nucleotide substitution...
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