Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Summary Objective In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis (TDH). Context Thyroid dyshormonogenesis comprises 10–15% of all cases of congenital hypothyroidism (CH), which is the most common neonatal endocrine disorder, and might result from disruptio...

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Veröffentlicht in:	Clinical endocrinology (Oxford) 2013-08, Vol.79 (2), p.275-281
Hauptverfasser:	Cangul, Hakan, Aycan, Zehra, Olivera-Nappa, Alvaro, Saglam, Halil, Schoenmakers, Nadia A., Boelaert, Kristien, Cetinkaya, Semra, Tarim, Omer, Bober, Ece, Darendeliler, Feyza, Bas, Veysel, Demir, Korcan, Aydin, Banu K., Kendall, Michaela, Cole, Trevor, Högler, Wolfgang, Chatterjee, V. Krishna K., Barrett, Timothy G., Maher, Eamonn R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Child Child, Preschool Congenital Hypothyroidism - genetics Consanguinity Endocrinopathies Female Fundamental and applied biological sciences. Psychology Humans Infant Infant, Newborn Iodide Peroxidase - genetics Male Medical sciences Mutation Mutation, Missense Pakistan Thyroid Hormones - biosynthesis Thyroid Hormones - genetics Turkey Vertebrates: endocrinology
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