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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Detalles Bibliográficos
Autores principales: Peters, Catherine, Nicholas, Adeline K., Schoenmakers, Erik, Lyons, Greta, Langham, Shirley, Serra, Eva G., Sebire, Neil J., Muzza, Marina, Fugazzola, Laura, Schoenmakers, Nadia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc., publishers 2019
Materias:
Thyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588112/
https://www.ncbi.nlm.nih.gov/pubmed/31044655
http://dx.doi.org/10.1089/thy.2018.0587

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