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


Creative Commons License

SEKERCI A., Balta B. , DÜNDAR M. , Hu Y., Reichenberger E., ETOZ O., et al.

MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL, cilt.19, 2014 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 19 Konu: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4317/medoral.19496
  • Dergi Adı: MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL

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.