A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in multiple organs associated with germline mutations in TSC1 and TSC2, including exonic, intronic, or mosaic mutations. Gastrointestinal (GI) tract Lymphangioleiomyomatosis (LAM) is an extreme...

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Detalles Bibliográficos
Autores principales: Han, Bogyeong, Lee, Juhwan, Kwak, Yoon Jin, Kim, Hyun-Young, Lee, Kwang Hoon, Shim, Yumi, Lee, Hyunju, Park, Sung-Hye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406734/
https://www.ncbi.nlm.nih.gov/pubmed/34465349
http://dx.doi.org/10.1186/s13000-021-01138-8

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