Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation
Author:
Affiliation:
1. Department of Pediatrics; Radboud University Medical Center Amalia Children's Hospital; Nijmegen The Netherlands
2. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference30 articles.
1. Noonan syndrome: The changing phenotype;Allanson;American Journal of Medical Genetics,1985
2. The face of Noonan syndrome: Does phenotype predict genotype;Allanson;American Journal of Medical Genetics Part A,2010
3. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;American Journal of Human Genetics,2013
4. Recent advances in RASopathies;Aoki;Journal of Human Genetics,2016
5. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: Does this predict a more severe phenotype;Brasil;Arquivos Brasileiros De Endocrinologia E Metabologia.,2010
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