Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features include benign enchondroma and spindle-cell hemangioma, with...

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Detalles Bibliográficos
Autores principales: Brown, Natasha J., Ye, Zimeng, Stutterd, Chloe, Jayasinghe, Sureshni I., Schneider, Amy, Mullen, Saul, Mandelstam, Simone A., Hildebrand, Michael S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751415/
https://www.ncbi.nlm.nih.gov/pubmed/34588213
http://dx.doi.org/10.1101/mcs.a006127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751415/
https://www.ncbi.nlm.nih.gov/pubmed/34588213
http://dx.doi.org/10.1101/mcs.a006127

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