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