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


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SEKERCI A., Balta B., DÜNDAR M., Hu Y., Reichenberger E., ETOZ O., ...Daha Fazla

MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL, cilt.19, sa.4, 2014 (SCI-Expanded) identifier identifier

Özet

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.