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[Gorlin syndrome in the paediatric age].
P Roncalés-Samanes, J L Peña-Segura1, R Fernando-Martínez
1HUMS. Hospital Universitario Miguel Servet, 50009 Zaragoza, Espana.
Gorlin syndrome (GS) is a rare genetic disorder linked to PTCH1 mutations. Early diagnosis and multidisciplinary follow-up are crucial for managing its characteristic features and potential complications.
Area of Science:
- Genetics
- Oncology
- Neurology
Background:
- Gorlin syndrome (GS) is an autosomal dominant disorder caused by PTCH1 gene mutations.
- Key features include basal cell carcinomas, skeletal abnormalities, odontogenic keratocysts, and intracranial tumors.
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