Contributions of PTCH gene variants to isolated cleft lip and palate.

  title={Contributions of PTCH gene variants to isolated cleft lip and palate.},
  author={Maria Adela Mansilla and Margaret E. Cooper and Toby H Goldstein and Eduardo Enrique Castilla and Jorge Santiago L{\'o}pez Camelo and Mary L. Marazita and Jeffrey C Murray},
  journal={The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association},
  volume={43 1},
OBJECTIVE Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma. Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome. Because there might be specific sequence alterations in PTCH that limit expression… CONTINUE READING