KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib.

Clara Lacasta-Plasin Victor Martínez-GonzálezLara Rodriguez-LagunaAntonio Cervantes-PardoTeresa Martinez-MenchonRegina Sanchez-JimenezMinia Campos-Dominguez

Published in: Clinical genetics (2021)

Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib.

Keyphrases

case report
wild type
ultrasound guided
loop mediated isothermal amplification
wound healing
real time pcr