Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)

Risultato della ricerca: Contributo in rivistaArticolo in rivista

7 Citazioni (Scopus)

Abstract

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). In most cases, the disorder is associated with germline pathogenic variants in the thyroid hormone receptor beta (THRB) gene. This paper summarizes the clinical and biochemical presentation of the disease, providing a comprehensive overview on molecular genetic features. Particular care is given in reporting all identified THRB variants with an assessed or unknown clinical significance. Our aim is to offer a useful tool for clinical and genetic specialists in order to ease clinical diagnosis and genetic counseling.
Lingua originaleEnglish
pagine (da-a)353-368
Numero di pagine16
RivistaMOLECULAR DIAGNOSIS & THERAPY
Volume23
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

  • Animals
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Humans
  • Mutation
  • Phenotype
  • Thyroid Hormone Receptors beta
  • Thyroid Hormone Resistance Syndrome
  • Thyroid Hormones

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