GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis.

@article{Yeh2000GNAS1MA,
  title={GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis.},
  author={George L Yeh and Srikanth Mathur and A Wivel and Ming Li and Francis H. Gannon and {\`A}ngels Ulied and Laura Aud{\'i} and E A Olmstead and Frederick S. Kaplan and Eileen M. Shore},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2000},
  volume={15 11},
  pages={2063-73}
}
We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic ossification of dermis and subcutaneous fat that progressed to involve deep skeletal muscles of the face, scalp, and eyes. Although involvement of skeletal muscle is a prominent feature of POH, heterotopic ossification has not been observed in the head, face, or extraocular muscles. The cutaneous ossification in this patient was… CONTINUE READING

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