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The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

Rui-Jia ZhangGuang-Lin YangFeng ChengFeng SunYa FangCao-Xu ZhangZheng WangFeng-Yao WuJun-Xiu ZhangShuang-Xia ZhaoJun LiangHuai-Dong Song
Published in: Clinical endocrinology (2021)
Our study expanded the variant spectrum of the genes related to TD in Chinese CH patients. It is rare that CH in Chinese patients could be explained by monogenic germline variants in genes related to TD. The hypothesis of an oligogenic origin of the CH should be considered.
Keyphrases
  • end stage renal disease
  • room temperature
  • genome wide
  • ejection fraction
  • copy number
  • chronic kidney disease
  • gene expression
  • patient reported outcomes
  • dna repair
  • circulating tumor