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


Sekerci A., Balta B., DÜNDAR M., Hu Y., Reichenberger E., Etoz O., ...More

MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL, vol.19, no.4, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 19 Issue: 4
  • Publication Date: 2014
  • Doi Number: 10.4317/medoral.19496
  • Journal Name: MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Cherubism, mandible, maxilla, SH3BP2, gene analysis, CBCT, DIAGNOSIS, FEATURES
  • Eskisehir Osmangazi University Affiliated: No

Abstract

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.