A novel patient with an attenuated Costello syndrome phenotype due to anHRASmutation affecting codon 146-Literature review and update
Author:
Affiliation:
1. Department of Paediatrics and Adolescent Medicine; LKS Faculty of Medicine; The University of Hong Kong; Hong Kong China
2. Division of Medical Genetics; A.l. duPont Hospital for Children; Wilmington Delaware
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nature Genetics,2005
2. The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website;Bamford;British journal of cancer,2004
3. Recombinant growth hormone therapy in a girl with Costello syndrome: A 4-year observation;Blachowska;Italian Journal of Pediatrics,2016
4. Orthopedic manifestations and implications for individuals with Costello syndrome;Detweiler;American Journal of Medical Genetics Part A,2013
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;Human Molecular Genetics,2010
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1. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing;Psychiatry Research Case Reports;2023-12
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. Management of nutritional and gastrointestinal issues in RASopathies : A narrative review;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12
4. 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
5. Multidisciplinary Management of Costello Syndrome: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-06
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