Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Cardio-Thoracic Surgery
- Emergency Medicine and Critical Care
- Women’s Health Care
- Pneumonia
- Microbiology
- Dermatology and Cosmetology
- Transplantation Medicine
- Medical Radiography
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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