Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder with a genetic origin. The purpose of the present study was to analyze the mutation spectrum of CH patients in China. A targeted next-generation sequencing panel covering all exons of 29 CH-related causative genes was used...

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Detalhes bibliográficos
Publicado no:Mol Med Rep
Main Authors: Wang, Huijuan, Kong, Xiaohong, Pei, Yanrui, Cui, Xuemei, Zhu, Yijie, He, Zixuan, Wang, Yanxia, Zhang, Lirong, Zhuo, Lixia, Chen, Chao, Yan, Xiaoli
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2020
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7248516/
https://ncbi.nlm.nih.gov/pubmed/32319661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2020.11078
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