DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the TSH receptor and PAX8, and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyr...

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Bibliografiske detaljer
Udgivet i:Thyroid
Main Authors: Srichomkwun, Panudda, Takamatsu, Junta, Nickerson, Deborah A., Bamshad, Michael J., Chong, Jessica X., Refetoff, Samuel
Format: Artigo
Sprog:Inglês
Udgivet: Mary Ann Liebert, Inc. 2017
Fag:
Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5206697/
https://ncbi.nlm.nih.gov/pubmed/27821020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2016.0469
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