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Croatian Medical Journal, Vol. 62 No. 5, 2021.

Case report, case study

https://doi.org/10.3325/cmj.2021.62.523

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

Ai Li ; Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Kunming Medical University, Kunming, China
Rong Jiang ; Kunming Medical University, Kunming, China
Kaijun Ding ; Second Affiliated Hospital of Kunming Medical University, Kunming, China
Bingqian Yang ; Kunming Medical University, Kunming, China

Full text: english pdf 978 Kb

page 523-527

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Abstract

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 counseling and targeted
gene therapy.

Keywords

Hrčak ID:

278801

URI

https://hrcak.srce.hr/278801

Publication date:

21.10.2021.

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