以外体序列测序为辅助,对四个患有I型斯蒂克勒综合征的家庭进行了精确诊断

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Runyi Tian1,2, Ping Tong3, Yuhong He2

  • 1Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

Molecular genetics & genomic medicine
|December 11, 2023
PubMed
概括

这项研究确定了新的COL2A1基因突变,导致Stickler综合征I型 (STL1) 和高近视. 致病性 COL2A1 突变会诱导内等质网膜应激,强调在诊断中需要进行非眼科检查.

关键词:
在 COL2A1A1 中.压力ERER压力ERER压力斯蒂克勒综合征 (Stickler Syndrome) 是一种基因型-表型相关性相关性新型突变 新型突变

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