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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Bibliografiske detaljer
Udgivet i:J Clin Res Pediatr Endocrinol
Main Authors: Cangül, Hakan, Doğan, Murat, Sağlam, Yaman, Kendall, Michaela, Boelaert, Kristien, G Barrett, Timothy, R Maher, Eamonn
Format: Artigo
Sprog:Inglês
Udgivet: Galenos Publishing 2014
Fag:
Original Article
Online adgang: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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