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
Autores principales: Cangül, Hakan, Doğan, Murat, Sağlam, Yaman, Kendall, Michaela, Boelaert, Kristien, G Barrett, Timothy, R Maher, Eamonn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293646/
https://www.ncbi.nlm.nih.gov/pubmed/25241611
http://dx.doi.org/10.4274/jcrpe.1404

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