Cargando…
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....
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 |
Ejemplares similares
-
A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report
por: Qian, Meijia, et al.
Publicado: (2022) -
A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China
por: Xie, Hongyan, et al.
Publicado: (2023) -
Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
por: Zhang, Suli, et al.
Publicado: (2022) -
A novel mutation of the THRB gene in a Japanese family with resistance to
thyroid hormone
por: Ito, Jumpei, et al.
Publicado: (2016) -
Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance
por: Heldmann, Marcus, et al.
Publicado: (2021)