Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature

Delil K., KARABULUT H. G., Hacihamdioglu B., ŞIKLAR Z., BERBEROĞLU M., Ocal G., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.8, sa.2, ss.144-149, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4274/jcrpe.2307
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.144-149
  • Anahtar Kelimeler: Idiopathic short stature, SHOX gene, pseudoautosomal region 1, height, arm span-height difference, LERI-WEILL DYSCHONDROSTEOSIS, GROWTH-HORMONE, DELETIONS, HOMEOBOX, CHILDREN, DEFICIENCY, PHENOTYPES, FAILURE
  • Ankara Üniversitesi Adresli: Evet

Özet

Objective: The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the mutation detection technique and inclusion criteria. We present phenotypic and genotypic data on 38 Turkish patients with ISS and the distinctive features of 1 patient with a SHOX deletion.