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...

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Detalles Bibliográficos
Autores principales: Li, Ai, Jiang, Rong, Li, Yongxia, Teng, Xixian, Ding, Kaijun, Yang, Bingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2021
Materias:
Case Report
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

Internet

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

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