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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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| Udgivet i: | Ann Pediatr Endocrinol Metab |
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| Hovedforfatter: | |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Korean Society of Pediatric Endocrinology
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6312914/ https://ncbi.nlm.nih.gov/pubmed/30599477 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2018.23.4.169 |
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