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

Bakir A., Yirmibeş Karaoğuz M., Emriye Percin F., Tuğ E., Cinaz P., Ergün M. A.

TURKISH JOURNAL OF MEDICAL SCIENCES, vol.48, no.2, pp.386-390, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 48 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.3906/sag-1711-74
  • Journal Name: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.386-390
  • Gazi University Affiliated: Yes

Abstract

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.