Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.9, ss.1201-1205, 2021 (SCI-Expanded, Scopus)
- 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.