One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism

Ob­jec­ti­ve: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and mutations in the TPO gene have been reported to cause CH. Our aim in this study was to determine the genetic basis of CH in two affected individuals coming from a consanguineous family. Methods: Since CH...

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Vydáno v:J Clin Res Pediatr Endocrinol
Hlavní autoři: Cangül, Hakan, Doğan, Murat, Sağlam, Yaman, Kendall, Michaela, Boelaert, Kristien, G Barrett, Timothy, R Maher, Eamonn
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2014
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4293646/
https://ncbi.nlm.nih.gov/pubmed/25241611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.1404
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