Journal Basic Info

  • Impact Factor: 1.809**
  • H-Index: 6
  • ISSN: 2474-1655
  • DOI: 10.25107/2474-1655
**Impact Factor calculated based on Google Scholar Citations. Please contact us for any more details.

Major Scope

  •  Palliative Care
  •  Otolaryngology
  •  Renal Disease
  •  Cancer Clinic
  •  Sports Medicine
  •  Cardiology
  •  Allergy & Immunology
  •  Pediatrics

Abstract

Citation: Ann Clin Case Rep. 2019;4(1):1641.DOI: 10.25107/2474-1655.1641

Thyroid Hormone Resistance in a Family due to a Mutation in the Receptor Beta Gene (p.M313V)

Frederico Vieira and Mushtaq A Godil

Department of Pediatrics, Oklahoma University, USA
Department of Pediatric, Geisinger Medical Center, Danville, USA

*Correspondance to: Frederico Vieira 

 PDF  Full Text Case Report | Open Access

Abstract:

Context: Resistance to Thyroid Hormone (RTH) is a rare disease characterized by reduced Thyroid (TH) hormone sensitivity due to a defect at the site of hormone action at the receptor level.Case Description: We are reporting a mutation in the β receptor gene that presented with RTH in 3 generations of family members with variable symptomatology within family members.

Keywords:

Cite the Article:

Vieira F, Godil MA. Thyroid Hormone Resistance in a Family due to a Mutation in the Receptor Beta Gene (p.M313V). Ann Clin Case Rep. 2019; 4: 1641.

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