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Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis−10 New Cases of Congenital Hypothyroidism and a Literature Review
Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder. Although it has been understood to be a monogenic disease, some CH patients are reported to carry two or more variants at different genes. Here, ten permanent congenital hypothyroidism (PCH) patients were retrospectively...
Autores principales: | Yang, Rulai, Lu, Yijun, Yang, Chenxi, Wu, Xiaoyu, Feng, Junqi, Zhu, Ling, Shu, Qiang, Jiang, Pingping |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397485/ https://www.ncbi.nlm.nih.gov/pubmed/34456971 http://dx.doi.org/10.3389/fgene.2021.694683 |
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