REFERENCES
- Roberts AE, Allanson JE, Tartaglia M, et al. Noonan syndrome. The Lancet 2013;381(9863):333–342.
- Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet 2013;14:355–369.
- Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29(4):465–468.
- Tartaglia M, Zampino G, Gelb BD. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol 2010;1(1):2–26.
- Bakker M, Pajkrt E, Mathijssen IB, et al. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn 2011;31(9):833–840.
- Pandit B, Sarkozy A, Pennacchio LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007;39(8):1007–12.
- Razzaque MA, Nishizawa T, Komoike Y, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007;39(8):1013–1017.
- Nicolaides KH, Azar GB. Thoraco-amniotic shunting. Fetal Diagn Ther 1990;5(3–4):153–164.
- Smith RP, Illanes S, Denbow ML, et al. Outcome of fetal pleural effusions treated by thoracoamniotic shunting. Ultrasound Obstet Gynecol 2005;26(1):63–66.