Clinical genetics of defects in thyroid hormone synthesis

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, a...

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Bibliographic Details
Main Author: Min Jung Kwak
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2018-12-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Online Access:http://e-apem.org/upload/pdf/apem-2018-23-4-169.pdf