Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium
Author:
Affiliation:
1. Department of CardiologyTokyo Metropolitan Children's Medical Center Tokyo Japan
2. Department of Cardiovascular SurgeryTokyo Metropolitan Children's Medical Center Tokyo Japan
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61448
Reference16 articles.
1. 2015 ESC Guidelines for the diagnosis and management of pericardial diseases
2. Effectiveness of therapeutic lymphography on lymphatic leakage
3. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
4. The RASopathies as an example of RAS/MAPK pathway disturbances—Clinical presentation and molecular pathogenesis of selected syndromes;Bezniakow N.;Developmental Period Medicine,2014
5. Genetics of lymphatic anomalies
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1. A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter];Pharmacogenomics and Personalized Medicine;2023-10
2. Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition;JCI Insight;2023-05-08
3. Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review;Molecular Syndromology;2021-09-10
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