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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Bibliographic Details
Main Authors: Sekerci, Ahmet E., Balta, Burhan, Hu, Ying, Reichenberger, Ernst J., Etoz, Osman A., Nazlim, Sinan, Bayrakdar, Ibrahim S.
Format: Artigo
Language:Inglês
Published: Medicina Oral S.L. 2014
Subjects:
Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4119308/
https://ncbi.nlm.nih.gov/pubmed/24608212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4317/medoral.19496
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