Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing

Bakir A., YİRMİBEŞ KARAOĞUZ M. , Emriye Percin F., TUĞ E. , CİNAZ P. , ERGÜN M. A.

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.48, ss.386-390, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 48 Konu: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.3906/sag-1711-74
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Sayfa Sayıları: ss.386-390

Özet

Background/aim: The aim of this study was to investigate the prevalence of the microdeletions and mutations of the SHOX gene in children with idiopathic short stature (ISS) by the usage of fluorescence in situ hybridization (FISH) and direct sequencing technique.