First presentation of a frameshift mutation in the SETD2 gene of a juvenile psammomatoid ossifying fibroma (JPOF) associated with an aneurysmal bone cyst

BACKGROUND: The rarity of juvenile psammomatoid ossifying fibroma (JPOF) and lack of cytogenetic studies prompted us to report a novel SETD2 gene mutation in a benign odontogenic tumour. CASE PRESENTATION: A 21-year-old man presented with a hard, expanded mandibular cortex. Computed tomography revea...

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Detalles Bibliográficos
Autores principales: Toferer, A., Truschnegg, A., Kashofer, K., Beham-Schmid, C., Beham, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8520634/
https://www.ncbi.nlm.nih.gov/pubmed/34657606
http://dx.doi.org/10.1186/s13000-021-01160-w

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