pyrimidinones and Melorheostosis

pyrimidinones has been researched along with Melorheostosis* in 1 studies

Other Studies

1 other study(ies) available for pyrimidinones and Melorheostosis

Article	Year
KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib. Clinical genetics, 2021, Volume: 100, Issue:4 Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib. Topics: Antineoplastic Combined Chemotherapy Protocols; Biopsy; Child, Preschool; Disease Management; DNA-Binding Proteins; Female; Genetic Association Studies; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Lymphangioleiomyomatosis; Melorheostosis; Membrane Proteins; Mutation; Proto-Oncogene Proteins p21(ras); Pyridones; Pyrimidinones; Sirolimus; Tomography, X-Ray Computed; Treatment Outcome	2021

Article

Year

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

Clinical genetics, 2021, Volume: 100, Issue:4

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

Topics: Antineoplastic Combined Chemotherapy Protocols; Biopsy; Child, Preschool; Disease Management; DNA-Binding Proteins; Female; Genetic Association Studies; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Lymphangioleiomyomatosis; Melorheostosis; Membrane Proteins; Mutation; Proto-Oncogene Proteins p21(ras); Pyridones; Pyrimidinones; Sirolimus; Tomography, X-Ray Computed; Treatment Outcome

2021