Article
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
Human mutation - 1 Jul 2017
Pantaleoni Francesca, Lev Dorit, Cirstea Ion C, Motta Marialetizia, Lepri Francesca Romana, Bottero Lisabianca, Cecchetti Serena, Linger Ilan, Paolacci Stefano, Flex Elisabetta, Novelli Antonio, Carè Alessandra, Ahmadian Mohammad R, Stellacci Emilia, Tartaglia Marco
Abstract excerpt
RASopathies are a group of rare, clinically related conditions affecting development and growth, and are caused by germline mutations in genes encoding signal transducers and modulators with a role in the RAS signaling network. These disorders share facial dysmorphia, short stature, variable cognitive deficits, skeletal and cardiac defects, and a variable predisposition to malignancies. Here, we report on a de...
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