Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Tarih
2013
Yazar
Olivera-Nappa, Alvaro
Bas, Veysel
DEMİR, KORCAN
Kendall, Michaela
Cole, Trevor
Hoegler, Wolfgang
Chatterjee, V. Krishna K.
Barrett, Timothy G.
Maher, Eamonn R.
Darendeliler, Fatma Feyza
Aydin, Banu K.
Cangul, Hakan
Aycan, Zehra
Saglam, Halil
Schoenmakers, Nadia A.
Boelaert, Kristien
Cetinkaya, Semra
Tarim, Omer
BÖBER, ECE
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Özet
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 disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes (NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have been implicated in the aetiology of the disease.
Bağlantı
http://hdl.handle.net/20.500.12627/164475
https://doi.org/10.1111/cen.12127
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