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A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: Report of a family with review of the literature
Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histopathological laboratory tests and a review of the literature. Study Design: Thi...
Autores principales: | Sekerci, Ahmet E., Balta, Burhan, Hu, Ying, Reichenberger, Ernst J., Etoz, Osman A., Nazlim, Sinan, Bayrakdar, Ibrahim S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medicina Oral S.L.
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119308/ https://www.ncbi.nlm.nih.gov/pubmed/24608212 http://dx.doi.org/10.4317/medoral.19496 |
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