SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.31, sa.11, ss.1273-1278, 2018 (SCI-Expanded, Scopus)
- 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.