Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12980
Abstract: Costello syndrome (CS) is caused by heterozygous germline HRAS mutations. Most patients share the HRAS mutation c.34G>A (p.Gly12Ser) associated with the typical, relatively homogeneous phenotype. Rarer mutations occurred in individuals with an attenuated phenotype. Although… read more here.
Keywords: mutation; mutation 179g; attenuated phenotype; hras mutation ... See more keywords
Activating HRAS mutation in a case of inverted ductal papilloma of the salivary gland.
Sign Up to like & getrecommendations! Published in 2021 at "Pathology international"
DOI: 10.1111/pin.13166
Abstract: Inverted ductal papilloma (IDP) is one of the least common benign papillary/cystic neoplasms of the salivary duct system, being characterized histologically by florid hyperplasia of duct-type epithelial cells into a cystic lumen near the orifice… read more here.
Keywords: hras mutation; inverted ductal; mutation case; ductal papilloma ... See more keywords