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A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient

Thyroid dyshormonogenesis is responsible for 10-15% of all cases of congenital hypothyroidism and is usually inherited. We report a 26-year-old German-Thai male with congenital hypothyroidism caused by a compound heterozygous mutation in the thyroid peroxidase (TPO) gene. He was diagnosed with conge...

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Detalles Bibliográficos
Autores principales: Sriphrapradang, Chutintorn, Thewjitcharoen, Yotsapon, Chanprasertyothin, Suwannee, Nakasatien, Soontaree, Himathongkam, Thep, Trachoo, Objoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096484/
https://www.ncbi.nlm.nih.gov/pubmed/26761947
http://dx.doi.org/10.4274/jcrpe.2503