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Croatian medical journal · Oct 2021
Case ReportsMultifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report.
- Ai Li, Rong Jiang, Yongxia Li, Xixian Teng, Kaijun Ding, and Bingqian Yang.
- Yongxia Li, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Kunming Medical University, Kunming, China, yongxiali999@163.com.
- Croat. Med. J. 2021 Oct 31; 62 (5): 523-527.
AbstractWe report on a 34-year-old woman diagnosed with tuberous sclerosis complex. The patient was admitted for respiratory manifestations, while multi-organ involvement made the diagnostic process challenging. Genetic testing revealed a novel mutation TSC1 c.2094_2110del (p.His699Ter), which expands the disease-causing variant spectrum. Our results may facilitate the disease diagnostics and help to devise genetic counseling and targeted gene therapy.
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