The rare Costello variantHRASc.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

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The rare Costello variantHRASc.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

Published:2016-02-17 Issue:6 Volume:170 Page:1433-1438
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hiippala Anita¹,Vasilescu Catalina²,Tallila Jonna³,Alastalo Tero-Pekka³⁴,Paetau Anders⁵,Tyni Tiina²,Suomalainen Anu²,Euro Liliya²,Ojala Tiina¹

Affiliation:

1. Department of Pediatric Cardiology; Children's Hospital; Helsinki University Hospital and University of Helsinki; Helsinki Finland

2. Research Program Unit; Molecular Neurology; Biomedicum Helsinki; University of Helsinki; Helsinki Finland

3. Blueprint Genetics; Helsinki Finland

4. Pediatric Research Laboratory; Helsinki University Hospital and University of Helsinki; Helsinki Finland

5. Department of Pathology; Helsinki University Hospital and University of Helsinki; Helsinki Finland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome;Axelrad;Am J Med Genet Part A,2009

2. ras genes;Barbacid;Annu Rev Biochem,1987

3. The structural basis of the activation of Ras by Sos;Boriack-Sjodin;Nature,1998

4. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders;Gremer;Hum Mutat,2011

5. Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype;Gripp;Am J Med Genet Part A,2012

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 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

2. Management of nutritional and gastrointestinal issues in RASopathies : A narrative review;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12

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. Peripheral Inhibition of Small C‐Terminal Domain Phosphatase 1 With Napthoquinone Analogs;Bulletin of the Korean Chemical Society;2020-06

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