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Multifocal 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. Genetic testing revealed a novel mutation TSC1 c.2094_2110del (p.His699Ter), which expands the d...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Croatian Medical Schools
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596470/ https://www.ncbi.nlm.nih.gov/pubmed/34730894 http://dx.doi.org/10.3325/cmj.2021.62.523 |