DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

Background: The etiology, course, and most appropriate management of borderline congenital hypothyroidism (CH) are poorly defined, such that the optimal threshold for diagnosis with bloodspot screening thyrotropin (bsTSH) measurement remains controversial. Dual oxidase 2 (DUOX2) mutations may initia...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Thyroid
Päätekijät: Peters, Catherine, Nicholas, Adeline K., Schoenmakers, Erik, Lyons, Greta, Langham, Shirley, Serra, Eva G., Sebire, Neil J., Muzza, Marina, Fugazzola, Laura, Schoenmakers, Nadia
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Mary Ann Liebert, Inc., publishers 2019
Aiheet:
Thyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6588112/
https://ncbi.nlm.nih.gov/pubmed/31044655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2018.0587
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