Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

Gursoy S., Hazan F., AYKUT A., Nalbantoglu O., Korkmaz H. A., DEMİR K., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.12, sa.4, ss.358-365, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4274/jcrpe.galenos.2020.2019.0001
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.358-365
  • Anahtar Kelimeler: SHOX gene, short stature, multiplex ligation-dependent probe amplification, sequence analysis, Madelung's deformity, hearing loss, IDIOPATHIC SHORT STATURE, CHILDREN, DEFICIENCY, PHENOTYPES, MUTATIONS, GENOTYPES
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Objective: SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Leri-weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). The aim of this study was to describe the clinical features and molecular results of SHOX deficiency in a group of Turkish patients who had skeletal findings with and without short stature.