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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…
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Keywords:
mutation;
mutation 179g;
attenuated phenotype;
hras mutation ... See more keywords