Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia

ABALI S., Abali Z. Y., Yararbas K., SEMİZ S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.9, ss.1201-1205, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 9
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2021-0087
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1201-1205
  • Anahtar Kelimeler: ALB gene, albumin, familial dysalbuminemic hyperthyroxinemia, hyperthyroxinemia, thyroid hormone resistance, DEFECTS
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Objectives: Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition caused by heterozygous gain-of-function mutations in the human ALB gene.