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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...

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Detalles Bibliográficos
Autores principales: Magne, Fabien, Serpa, Roman, Van Vliet, Guy, Samuels, Mark E., Deladoëy, Johnny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
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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