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Central congenital hypothyroidism caused by a novel mutation, C47W, in the cysteine knot region of TSHβ

BACKGROUND: Isolated central congenital hypothyroidism (ICCH) is a rare form (1:50,000 newborn) of congenital hypothyroidism, which can present with growth and neuropsychological retardation. Unlike the more common primary CH (1:1,500–1:4,000), which presents on newborn screening with elevated serum...

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Detalhes bibliográficos
Publicado no:Horm Res Paediatr
Main Authors: Ebrhim, Reham S., Bruellman, Ryan J., Watanabe, Yui, Creech, Matthew K., Abdullah, Mohamed A., Dumitrescu, Alexandra M., Refetoff, Samuel, Weiss, Roy E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7308213/
https://ncbi.nlm.nih.gov/pubmed/31914441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000504981
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