Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report

Isik E., Beck-Peccoz P., Campi I., ÖZÖN Z. A., ALİKAŞİFOĞLU A., GÖNÇ E. N., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.55, sa.3, ss.322-327, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 3
  • Basım Tarihi: 2013
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.322-327
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene. In the present report, we describe the clinical and laboratory characteristics and genetic analysis of patients with a novel THRB gene mutation.