Article

A case of Gorlin--Goltz syndrome without the characteristic physical features that was diagnosed after the development of a fifth cancer

2024-01-31

Abstract excerpt

We present a case of Gorlin–Goltz syndrome (GGS) in a patient who developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal cell carcinoma, and odontogenic keratocyst by the age of 19 years. He had no known family history and no characteristic physical features of GGS. A frameshift mutation in the PTCH1 gene was found in the oral mucosa as a low-frequency mosaicism, basal cell carcinoma, and normal...

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Literature Corpus work: 38cc8c82-6a6f-5d20-b4c9-5b45e7a5fc6f
DOI: 10.22541/au.170669091.14260174/v1

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