Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene.
FT3
FT4
THRB gene
TSH
Thyroid
free thyroxine
free triiodothyronine
resistance to thyroid hormone
thyroid stimulating hormone
Journal
Hippokratia
ISSN: 1108-4189
Titre abrégé: Hippokratia
Pays: Greece
ID NLM: 101296613
Informations de publication
Date de publication:
Historique:
entrez:
26
6
2020
pubmed:
26
6
2020
medline:
26
6
2020
Statut:
ppublish
Résumé
Resistance to thyroid hormone (RTH) is a rare dominantly inherited disorder mainly due to variants in the Clinical and molecular characteristics of four patients with RTH are described. Four patients with various phenotypes were studied; two prepubertal boys and two adults (one male and one female). Sequencing analysis of the Various phenotypes characterize common variants in the
Sections du résumé
BACKGROUND
BACKGROUND
Resistance to thyroid hormone (RTH) is a rare dominantly inherited disorder mainly due to variants in the
CASE REPORT
METHODS
Clinical and molecular characteristics of four patients with RTH are described. Four patients with various phenotypes were studied; two prepubertal boys and two adults (one male and one female). Sequencing analysis of the
CONCLUSIONS
CONCLUSIONS
Various phenotypes characterize common variants in the
Types de publication
Case Reports
Langues
eng
Pagination
135-139Informations de copyright
Copyright 2019, Hippokratio General Hospital of Thessaloniki.
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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