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- [4] Noonan syndrome: Severe phenotype and PTPN11 mutations MEDICINA CLINICA, 2019, 152 (02): : 62 - 64
- [10] A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome European Journal of Human Genetics, 2004, 12 : 1069 - 1072