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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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| Publicado no: | Horm Res Paediatr |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| 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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