Article
Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis.
Hormone research in paediatrics - 1 Jan 2015
Magne Fabien, Serpa Roman, Van Vliet Guy, Samuels Mark E, Deladoëy Johnny
Abstract excerpt
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 cases are explained by mutation(s) in known genes, most of which are transcription factors implicated in the embryology...
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