SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics

Kurnaz E., Sayas-Erdeye S., Cetinkaya S., AYCAN Z.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.31, sa.11, ss.1273-1278, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 11
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1515/jpem-2018-0038
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1273-1278
  • Anahtar Kelimeler: GH therapy, IGF-1, short stature, SHOX deficiency, LERI-WEILL DYSCHONDROSTEOSIS, IDIOPATHIC SHORT STATURE, TURKISH CHILDREN, TURNER SYNDROME, GROWTH-HORMONE, HEIGHT, HAPLOINSUFFICIENCY, DEFICIENCY, HOMEOBOX, PHENOTYPES
  • Ankara Üniversitesi Adresli: Evet

Özet

Background: The short stature homeobox-containing (SHOX) gene strongly affects height. Therefore, a better understanding of Sf/OX haploinsufficiency could be advantageous to early diagnosis and treatment. We investigated the rate of SHOX haploinsufficiency in patients of short stature and documented their anthropometric measurements.