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A novel TSC2 mutation in a patient with tuberous sclerosis complex
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  • Minh Thu Tran Vu,
  • Thuy Vy Nguyen,
  • Bao Nam Tran Huynh,
  • Lan Anh Le,
  • Ngoc Thieu Pham Nguyen,
  • Thi Dieu Ai Nguyen,
  • Ngoc Hong Phuong Le,
  • Vinh Pham Nguyen,
  • Thuy Duong Ho Huynh
Minh Thu Tran Vu
Tam Duc Heart Hospital
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Thuy Vy Nguyen
Vietnam National University Ho Chi Minh City University of Science
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Bao Nam Tran Huynh
KTEST Science Company
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Lan Anh Le
KTEST Science Company
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Ngoc Thieu Pham Nguyen
KTEST Science Company
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Thi Dieu Ai Nguyen
KTEST Science Company
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Ngoc Hong Phuong Le
Vietnam National University Ho Chi Minh City, School of Medicine
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Vinh Pham Nguyen
Tam Duc Heart Hospital
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Thuy Duong Ho Huynh
Vietnam National University Ho Chi Minh City University of Science
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Abstract

We reported a patient presenting with tuberous sclerosis complex. Next-generation sequencing showing a frameshift mutation in TSC2 gene confirmed the clinical diagnosis. The study contributed to raise medical awareness on tuberous sclerosis complex in Vietnam that could lead to future approval of its diagnostics and treatment.