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    Did you mean Gorlin Syndrome?
    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.

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    Research 30 of 84

    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. PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS) Anticancer Research · 2018 · 21 citations
    11. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    12. Dermoscopy — 4th Conference of the Section of Dermoscopy and Other Skin Imaging Techniques (DiTOS) of the Polish Dermatological Society — Abstracts Forum Dermatologicum · 2026
    13. Metabolism and skin diseases Reviews in Endocrine and Metabolic Disorders · 2016 · 8 citations
    14. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
    15. Polycystic Ovary Syndrome and the Metabolic Syndrome Long-Term Risks Humana Press eBooks · 2008
    16. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    17. Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature Jaypee's international journal of clinical pediatric dentistry · 2018 · 11 citations
    18. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    19. Basal cell carcinoma — molecular biology and potential new therapies Journal of Clinical Investigation · 2012 · 146 citations
    20. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    21. Converging physiological roles of the anthrax toxin receptors F1000Research · 2019 · 15 citations
    22. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    23. Dermatologic care of patients with differences of sex development International Journal of Women’s Dermatology · 2023 · 1 citations
    24. TONGUE, RED 2006
    25. Subject Index Journal of The American Academy of Dermatology · 2014
    26. Molecular pathology of skin adnexal tumours Histopathology · 2021 · 16 citations
    27. Skin Development and Disease: A Molecular Perspective Current Issues in Molecular Biology · 2024 · 15 citations
    28. Oncogenes and morphogens: intricacies of targeted therapy in cutaneous basal cell carcinoma British Journal of Dermatology · 2017
    29. Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2025
    30. Basal Cell Carcinoma, Hedgehog Signaling, and Targeted Therapeutics: The Long and Winding Road Journal of Investigative Dermatology · 2014 · 15 citations