Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the lymphatics can result in debilitating and life-threatening disease with limited treatment options. We identified 4 individuals with CCLA, lymphedema, and microcystic lymphatic malformation due to pathogenic, mosaic v...

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Detalles Bibliográficos
Autores principales: Sheppard, Sarah E., March, Michael E., Seiler, Christoph, Matsuoka, Leticia S., Kim, Sophia E., Kao, Charlly, Rubin, Adam I., Battig, Mark R., Khalek, Nahla, Schindewolf, Erica, O’Connor, Nora, Pinto, Erin, Priestley, Jessica R.C., Sanders, Victoria R., Niazi, Rojeen, Ganguly, Arupa, Hou, Cuiping, Slater, Diana, Frieden, Ilona J., Huynh, Thy, Shieh, Joseph T., Krantz, Ian D., Guerrero, Jessenia C., Surrey, Lea F., Biko, David M., Laje, Pablo, Castelo-Soccio, Leslie, Nakano, Taizo A., Snyder, Kristen, Smith, Christopher L., Li, Dong, Dori, Yoav, Hakonarson, Hakon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243805/
https://www.ncbi.nlm.nih.gov/pubmed/37154160
http://dx.doi.org/10.1172/jci.insight.155888

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