Thyroid dyshormonogenesis is mainly caused byTPOmutations in consanguineous community

Author:

Cangul Hakan,Aycan Zehra1,Olivera-Nappa Alvaro2,Saglam Halil3,Schoenmakers Nadia A.4,Boelaert Kristien5,Cetinkaya Semra1,Tarim Omer3,Bober Ece6,Darendeliler Feyza7,Bas Veysel1,Demir Korcan6,Aydin Banu K.7,Kendall Michaela8,Cole Trevor9,Högler Wolfgang10,Chatterjee V. Krishna K.4,Barrett Timothy G.,Maher Eamonn R.1

Affiliation:

1. Division of Paediatric Endocrinology; Dr Sami Ulus Woman Health; Children Research Hospital; Ankara; Turkey

2. Department of Biochemistry; University of Cambridge; Cambridge; UK

3. Department of Paediatric Endocrinology; School of Medicine; Uludag University; Bursa; Turkey

4. Institute of Metabolic Science; Addenbrooke's Hospital; University of Cambridge; Cambridge; UK

5. Centre for Endocrinology; Diabetes and Metabolism; School of Clinical and Experimental Medicine; University of Birmingham; Birmingham; UK

6. Division of Endocrinology; Department of Paediatrics; Faculty of Medicine; Dokuz Eylül University; Izmir; Turkey

7. Pediatric Endocrinology Unit; Istanbul Faculty of Medicine; Istanbul University; Istanbul; Turkey

8. Department of Child Health; Division of Clinical and Experimental Sciences; Faculty of Medicine; Southampton; UK

9. West Midlands Regional Genetics Service; Clinical Genetics Unit; Birmingham Women's Hospital; Birmingham; UK

10. Department of Endocrinology and Diabetes; Birmingham Children's Hospital; Birmingham; UK

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference13 articles.

1. Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism;Grasberger;Molecular and Cellular Endocrinology,2010

2. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations;Targovnik;Molecular and Cellular Endocrinology,2010

3. Genetic causes of congenital hypothyroidism due to dyshormonogenesis;Grasberger;Current Opinion in Pediatrics,2011

4. Genetics of congenital hypothyroidism;Park;Journal of Medical Genetics,2005

5. Genetics and phenomics of hypothyroidism and goiter due to TPO mutations;Ris-Stalpers;Molecular and Cellular Endocrinology,2010

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