Somatic NRAS mutation in patient with generalized lymphatic anomaly
Sign Up to like & getrecommendations! Published in 2018 at "Angiogenesis"
DOI: 10.1007/s10456-018-9595-8
Abstract: Generalized lymphatic anomaly (GLA or lymphangiomatosis) is a rare disease characterized by a diffuse proliferation of lymphatic vessels in skin and internal organs. It often leads to progressive respiratory failure and death, but its etiology… read more here.
Keywords: nras mutation; generalized lymphatic; somatic nras; lymphatic anomaly ... See more keywords
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Human Genetics"
DOI: 10.1038/s10038-018-0539-3
Abstract: Schimmelpenning syndrome is a rare neurocutaneous disorder categorized as a mosaic RASopathy due to postzygotic HRAS or KRAS mutations. We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation.… read more here.
Keywords: renovascular hypertension; postzygotic kras; diabetes mellitus; mutation patient ... See more keywords