Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Cangul, Hakan; Aycan, Zehra; Olivera-Nappa, Alvaro; SAĞLAM, HALİL; Schoenmakers, Nadia; Boelaert, Kristien; Cetinkaya, Semra; TARIM, ÖMER; BÖBER, ECE; Darendeliler, Feyza; Bas, Veysel; DEMİR, KORCAN; Aydin, Banu; Kendall, Michaela; Cole, Trevor; Hoegler, Wolfgang; Chatterjee, V.; Barrett, Timothy; Maher, Eamonn

doi:10.1111/cen.12127

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Atıf İçin Kopyala

Cangul H., Aycan Z., Olivera-Nappa A., SAĞLAM H., Schoenmakers N. A., Boelaert K., ...Daha Fazla

CLINICAL ENDOCRINOLOGY, cilt.79, sa.2, ss.275-281, 2013 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 79 Sayı: 2
Basım Tarihi: 2013
Doi Numarası: 10.1111/cen.12127
Dergi Adı: CLINICAL ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.275-281
Dokuz Eylül Üniversitesi Adresli: Evet

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.