Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35294/fullpdf
Reference20 articles.
1. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat Genet,2005
2. Longitudinal course of cognitive, adaptive and behavioral characteristics in Costello syndrome;Axelrad;Am J Med Genet Part A,2009
3. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009
4. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors;Goriely;Nat Genet,2009
5. Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation;Gremer;Hum Mol Genet,2010
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1. Adult syndromology: challenges, opportunities and perspectives;Medizinische Genetik;2024-06-05
2. A very mild phenotype in six individuals of a three‐generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS‐related RASopathy distinct from Costello syndrome;American Journal of Medical Genetics Part A;2023-05-16
3. A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome;European Journal of Human Genetics;2022-06-29
4. Multidisciplinary Management of Costello Syndrome: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-06
5. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp;American Journal of Medical Genetics Part A;2017-04-03
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