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Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis
BACKGROUND/AIMS: Congenital primary hypothyroidism (CH) is a rare pediatric disorder estimated to occur in about 1: 2,500 live births. Approximately half of these cases entail ectopic thyroid tissue, which is believed to result from a migration defect during embryogenesis. Approximately 3% of CH cas...
Autores principales: | Magne, Fabien, Serpa, Roman, Van Vliet, Guy, Samuels, Mark E., Deladoëy, Johnny |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050031/ https://www.ncbi.nlm.nih.gov/pubmed/25277881 http://dx.doi.org/10.1159/000365393 |
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