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, cilt.48, sa.2, ss.386-390, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.3906/sag-1711-74
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.386-390
  • Gazi Üniversitesi Adresli: Evet

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.