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Article

Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report.

Croatian medical journal - 31 Oct 2021

Li Ai, Jiang Rong, Li Yongxia, Teng Xixian, Ding Kaijun, Yang Bingqian

Abstract excerpt

We 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...

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PMID: 34730894
PMCID: PMC8596470

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