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通过基于下一代测序的全面查系统,对古典的埃勒斯-丹洛斯综合征进行临床和分子划分

Tomomi Yamaguchi1,2,3, Kazuo Yamada4,5, So Nagai1,3,6

  • 1Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

Frontiers in genetics
|September 15, 2023
PubMed
概括

经典的埃勒斯-丹洛斯综合征 (clEDS) 是由TNXB基因变异引起的. 一个新的NGS系统准确地检测到这些变体和TNXA重组,识别了9名新患者,并突出了胃肠道并发症风险的增加.

关键词:
埃勒斯 - 丹洛斯综合征在TNXBB上.一个古典般的古典主义.结合组织疾病 结合组织疾病纳辛-X 的使用.

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