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A recurrent PDGFRB mutation causes familial infantile myofibromatosis

Cheung et al. (2013)

The American Journal of Human Genetics 92: 996–1000.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis

Martignetti et al. (2013)

The American Journal of Human Genetics 92: 1001–1007.