Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q.
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Among his laboratory's many subsequent discoveries, he is recognized for the cloning of the patched gene family and demonstration that a human homolog PTCH1 is a key tumor suppressor gene for the Hedgehog signaling pathway as well as the causative gene for the nevoid basal cell carcinoma syndrome, or Gorlin syndrome.