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Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report

BACKGROUND: Gastrointestinal stromal tumors (GISTs) represent the most frequent mesenchymal tumor of the gastrointestinal tract. Less than 5% of them seem to be hereditary, being succinate dehydrogenase complex (SDHx) deficient disorders and neurofibromatosis type 1 the more related inherited condit...

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Detalles Bibliográficos
Autores principales:	Carrera, Sergio, Beristain, Elena, Sancho, Aintzane, Iruarrizaga, Eluska, Rivero, Pilar, Mañe, Juan Manuel, López Vivanco, Guillermo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688230/ https://www.ncbi.nlm.nih.gov/pubmed/31413764 http://dx.doi.org/10.1186/s13053-019-0124-6

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