Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference28 articles.
1. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;Am. J. Hum. Genet.,2013
2. Further evidence of the importance of RIT1 in Noonan syndrome;Bertola;Am. J. Med. Genet. A,2014
3. Health and quality of life in adults with Noonan syndrome;Binder;J. Pediatr.,2012
4. Coronary artery ectasia in Noonan syndrome: report of an individual with SOS1 mutation and literature review;Calcagni;Am. J. Med. Genet. A,2016
5. Congenital heart defects in Noonan syndrome and RIT1 mutation;Calcagni;Genet. Med,2016
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1. A Noonan‐like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia;American Journal of Medical Genetics Part A;2023-08-09
2. Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report;BMC Pediatrics;2023-01-02
3. A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review;Molecular Genetics and Metabolism Reports;2022-12
4. Noonan syndrome caused by RIT1 gene mutation: A case report and literature review;Frontiers in Pediatrics;2022-09-07
5. Characteristics and long-term outcome for congenital left main coronary artery atresia;Cardiology in the Young;2022-03-30
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