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Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report

Thyroid hormone resistance (RTH) (mim # 188570) is a rare autosomal dominant genetic disorder characterized by reduced thyroid hormone response in target tissues. The clinical manifestations of RTH vary from no symptoms to symptoms of thyroid hormone deficiency to symptoms of thyroid hormone excess....

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Detalles Bibliográficos
Autores principales: Feng, Jinhua, Lin, Shuangzhu, Wang, Wei, Chen, Qiandui, Wang, Wanqi, Li, Jiayi, Wang, Xinyao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10145980/
https://www.ncbi.nlm.nih.gov/pubmed/37115071
http://dx.doi.org/10.1097/MD.0000000000033587