Publication: Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
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Thiel, C., Wilken, M., Zenker, M., Sticht, H., Fahsold, R., Gusek-Schneider, G. C., & Rauch, A. (2009). Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. American Journal of Medical Genetics. Part A, 149A, 1263–1267. https://doi.org/10.1002/ajmg.a.32837
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Neurofibromatosis-Noonan syndrome (NFNS), an entity which combines both features of Noonan syndrome (NS) and neurofibromatosis type 1 (NF1), was etiologically unresolved until recent reports demonstrated NF1 mutations in the majority of patients with NFNS. The phenotypic overlap was explained by the involvement of the Ras pathway in both disorders, and, accordingly, clustering of the NF1 mutations in the GTPase-activating protein (GAP) domain of neurofibromin was observed in individuals with NFNS. We report on an 18-month-old girl wit
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- Thiel, C
- Wilken, M
- Zenker, M
- Sticht, H
- Fahsold, R
- Gusek-Schneider, G C
- Rauch, A
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Thiel, C., Wilken, M., Zenker, M., Sticht, H., Fahsold, R., Gusek-Schneider, G. C., & Rauch, A. (2009). Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. American Journal of Medical Genetics. Part A, 149A, 1263–1267. https://doi.org/10.1002/ajmg.a.32837
