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    Glossary Gorlin Syndrome

    genetic disorder causing multiple skin cancers and jaw cysts

    Gorlin Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), is a genetic disorder characterized by the development of multiple basal cell carcinomas (a type of skin cancer), jaw cysts, and skeletal abnormalities. It is caused by mutations in the PTCH1 gene, which plays a role in cell growth and development. This syndrome can also lead to other health issues, such as developmental delays and an increased risk of other types of tumors.

    Research 10 of 234

    1. Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene Journal of Dermatology · 2011 · 1 citations
    2. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    3. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome The Application of Clinical Genetics · 2022 · 2 citations
    4. Inherited disorders of the skin in human and mouse: from development to differentiation. The International Journal of Developmental Biology · 2004 · 25 citations
    5. Experience with sonidegib in patients with advanced basal cell carcinoma: case reports Drugs in Context · 2022 · 9 citations
    6. 139 Anti-BCC efficacy of a topical hedgehog inhibitor without adverse effects in BCNS patients in a phase 2 randomized controlled trial 2018 · 1 citations
    7. 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction Journal of Investigative Dermatology · 2023
    8. BRITISH ASSOCIATION OF DERMATOLOGY. British Journal of Dermatology · 1966
    9. Experiences with Smo antagonist vismodegib for the treatment of locally advanced basal cell carcinoma 2017
    10. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
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