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...

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Detalles Bibliográficos
Autores principales: Yang, Rulai, Lu, Yijun, Yang, Chenxi, Wu, Xiaoyu, Feng, Junqi, Zhu, Ling, Shu, Qiang, Jiang, Pingping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
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

Internet

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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