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Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

CONTEXT: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a predominantly sporadic and nonsyndromic (NS) condition of unknown etiology. NS-CHTD shows a 40-fold increase in relative risk among first-degree relatives (1 in 100 compared with a birth prevalence of 1 in 4000 in the general p...

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Detalles Bibliográficos
Autores principales: Larrivée-Vanier, Stéphanie, Jean-Louis, Martineau, Magne, Fabien, Bui, Helen, Rouleau, Guy A., Spiegelman, Dan, Samuels, Mark E., Kibar, Zoha, Van Vliet, Guy, Deladoëy, Johnny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc., publishers 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145262/
https://www.ncbi.nlm.nih.gov/pubmed/35272499
http://dx.doi.org/10.1089/thy.2021.0597