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...

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Detalles Bibliográficos
Autores principales: Sekerci, Ahmet E., Balta, Burhan, Hu, Ying, Reichenberger, Ernst J., Etoz, Osman A., Nazlim, Sinan, Bayrakdar, Ibrahim S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medicina Oral S.L. 2014
Materias:
Research
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

Internet

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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