What are the Clinical Implications of PTCH Dysfunction?
Mutations in the PTCH gene are associated with several genetic disorders, such as Gorlin Syndrome (also known as Nevoid Basal Cell Carcinoma Syndrome). This condition is characterized by a predisposition to basal cell carcinomas, jaw cysts, and other abnormalities. Additionally, PTCH mutations are implicated in the development of various types of cancers, including medulloblastoma and rhabdomyosarcoma.
