nevoid basal cell carcinoma syndrome (nbccs)

What is Nevoid Basal Cell Carcinoma Syndrome?

Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin Syndrome, is a rare genetic disorder characterized by numerous basal cell carcinomas, jaw cysts, and skeletal abnormalities. This syndrome is primarily caused by mutations in the PTCH1 gene, which plays a crucial role in the Hedgehog signaling pathway. This pathway is significant in regulating cell growth and development, and its disruption can lead to the formation of tumors.

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