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A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report

INTRODUCTION: Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws and developmental defects. The disorder results from mutations in the PTCH1 gene. CASE PRESENTATION: A 15-year-old boy present...

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Detalles Bibliográficos
Autores principales: Hellani, Ali, Baghdadi, Hiba, Dabbour, Nidal, Almassri, Nidal, Abu-Amero, Khaled K
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642855/
https://www.ncbi.nlm.nih.gov/pubmed/19203369
http://dx.doi.org/10.1186/1752-1947-3-52