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KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib
Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib.
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| Published in: | Clinical genetics 2021-10, Vol.100 (4), p.484-485 |
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| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c3208-3cbcf089efff404862b4609c1fa80ab1a29916373c7691e1c6ac3bd66f4592e53 |
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| cites | cdi_FETCH-LOGICAL-c3208-3cbcf089efff404862b4609c1fa80ab1a29916373c7691e1c6ac3bd66f4592e53 |
| container_end_page | 485 |
| container_issue | 4 |
| container_start_page | 484 |
| container_title | Clinical genetics |
| container_volume | 100 |
| creator | Lacasta‐Plasin, Clara Martinez‐Glez, Victor Rodriguez‐Laguna, Lara Cervantes‐Pardo, Antonio Martinez‐Menchon, Teresa Sanchez‐Jimenez, Regina Campos‐Dominguez, Minia |
| description | Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib. |
| doi_str_mv | 10.1111/cge.14018 |
| format | article |
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| fulltext | fulltext |
| identifier | ISSN: 0009-9163 |
| ispartof | Clinical genetics, 2021-10, Vol.100 (4), p.484-485 |
| issn | 0009-9163 1399-0004 |
| language | eng |
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| source | Wiley |
| subjects | Antineoplastic Combined Chemotherapy Protocols - therapeutic use Biopsy Child, Preschool Disease Management DNA-Binding Proteins - genetics Female Genetic Association Studies Genetic Predisposition to Disease Germ-Line Mutation Humans Lymphangioleiomyomatosis - diagnosis Lymphangioleiomyomatosis - drug therapy Lymphangioleiomyomatosis - genetics Melorheostosis Melorheostosis - diagnosis Melorheostosis - drug therapy Melorheostosis - genetics Membrane Proteins - genetics Mutation Proto-Oncogene Proteins p21(ras) - genetics Pyridones Pyrimidinones Rapamycin Sirolimus Stenosis Tomography, X-Ray Computed Treatment Outcome |
| title | KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib |
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