Noonan syndrome other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Other Diagnostic Studies
Genetic Analysis
Eight genes all involved in the RAS/MAP kinase pathway have been identified as possible causes for Noonan syndrome. In order of prevalence, the causative mutations involve the following genes: PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, and CBL. Definitive diagnosis is usually with genetic testing which is commonly by chip-based sequencing, to simultaneously test all the genes that could be involved. [1]
References
- ↑ Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013). "Noonan syndrome". Lancet. 381 (9863): 333–42. doi:10.1016/S0140-6736(12)61023-X. PMID 23312968.
Template:Phakomatoses and other congenital malformations not elsewhere classified