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Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing

BACKGROUND/AIMS: Central hypothyroidism (CH) in children is rare and may be due to a variety of genetic defects. Most of these defects, but not all, are associated with additional pituitary hormone deficits. In a young child presenting with CH, it is important to determine whether additional pituita...

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Главные авторы: Wassner, Ari J., Cohen, Laurie E., Hechter, Eliana, Dauber, Andrew
Формат: Artigo
Язык:Inglês
Опубликовано: 2013
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3788832/
https://ncbi.nlm.nih.gov/pubmed/23652424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000350013
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