New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRα1

We found a sporadic case of mental retardation associated with short stature and constipation. We investigated the possible genetic origin of the syndrome. Clinical and biochemical investigations were conducted. Exome sequencing was used to search for pathogenic variations. A de novo mutation (c.118...

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Detalles Bibliográficos
Autores principales: Sun, Hui, Wu, Haiying, Xie, Rongrong, Wang, Fengyun, Chen, Ting, Chen, Xiuli, Wang, Xiaoyan, Flamant, Frédéric, Chen, Linqi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397419/
https://www.ncbi.nlm.nih.gov/pubmed/30842990
http://dx.doi.org/10.1210/js.2019-00011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397419/
https://www.ncbi.nlm.nih.gov/pubmed/30842990
http://dx.doi.org/10.1210/js.2019-00011

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