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Three Cases of Family Occurrence of Moyamoya Disease with RASA1 Mutations
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  • Xun Li,
  • Miaomiao Ma,
  • Ran Liu,
  • Yun Yang,
  • Wei Yue
Xun Li

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Miaomiao Ma
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Ran Liu
Tianjin Huanhu Hospital
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Yun Yang
Tianjin Huanhu Hospital
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Wei Yue
Tianjin Huanhu Hospital
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Abstract

We report family moyamoya disease consist of a 53-year-old female and her two 31-year-old daughters, with the second-born daughter encounter cerebral hemorrhage. CT angiography showed the typical moyamoya disease change in both case 1-3. Clinical whole exome sequencing was performed in the three daughters of patient in case 1