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., ...Daha Fazla

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

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 19 Sayı: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4317/medoral.19496
  • Dergi Adı: MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Cherubism, mandible, maxilla, SH3BP2, gene analysis, CBCT, DIAGNOSIS, FEATURES
  • Eskişehir Osmangazi Üniversitesi Adresli: Hayır

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.