Croatian medical journal
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Croat. Med. J.
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Croatian medical journal · Oct 2021
Case ReportsMultifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report.
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. ⋯ 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.