SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions
- 8 April 2009
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 17 (10), 1216-1221
- https://doi.org/10.1038/ejhg.2009.44
Abstract
No abstract availableThis publication has 40 references indexed in Scilit:
- Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeEuropean Journal of Human Genetics, 2008
- SH3BP2 is an activator of NFAT activity and osteoclastogenesisBiochemical and Biophysical Research Communications, 2008
- Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jawBritish Journal of Oral and Maxillofacial Surgery, 2008
- Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndromeJournal of Medical Genetics, 2007
- Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeNature Genetics, 2006
- Germline gain-of-function mutations in SOS1 cause Noonan syndromeNature Genetics, 2006
- Germline KRAS mutations cause Noonan syndromeNature Genetics, 2006
- Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patientAmerican Journal of Medical Genetics Part A, 2005
- A case of neurofibromatosis-Noonan syndrome with a central giant cell granulomaOral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2004
- Differentiation of multiple giant cell lesions, Noonan-like syndrome, and (occult) hyperparathyroidism: Case report and review of the literatureInternational Journal of Oral & Maxillofacial Surgery, 1994