High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
Human Mutation | July 14, 2015 | Volume: 36 | Issue: 11 | Pages: 1052-1063
10.1002/humu.22832
| PMID 26178382