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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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Detalhes bibliográficos
Publicado no:Ann Pediatr Endocrinol Metab
Autor principal: Kwak, Min Jung
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Society of Pediatric Endocrinology 2018
Assuntos:
Acesso em linha: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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