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...

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Detalhes bibliográficos
Publicado no:Thyroid
Main Authors: Peters, Catherine, Nicholas, Adeline K., Schoenmakers, Erik, Lyons, Greta, Langham, Shirley, Serra, Eva G., Sebire, Neil J., Muzza, Marina, Fugazzola, Laura, Schoenmakers, Nadia
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc., publishers 2019
Assuntos:
Thyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Acesso em linha: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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