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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Detalles Bibliográficos
Publicado en:J Clin Res Pediatr Endocrinol
Main Authors: Cangül, Hakan, Doğan, Murat, Sağlam, Yaman, Kendall, Michaela, Boelaert, Kristien, G Barrett, Timothy, R Maher, Eamonn
Formato: Artigo
Idioma:Inglês
Publicado: Galenos Publishing 2014
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Original Article
Acceso en liña: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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