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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Korean Society of Pediatric Endocrinology,
2018-12-01T00:00:00Z.
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