Case Report: PTCH1 Splice-Site Mutation and Sonidegib Treatment in Gorlin-Goltz Syndrome: Clinical Insights from a Family Case Study

    February 2026 in “ Frontiers in Medicine ”
    Liu L, H D Du, Neng Wang … Lingli Deng
    Studysummary In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on public-pages-files-2025.frontiersin.org →
    Discuss this study in the Community →