Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

M Gos, S Fahiminiya, J Poznański… - American journal of …, 2014 - Wiley Online Library
M Gos, S Fahiminiya, J Poznański, J Klapecki, E Obersztyn, M Piotrowicz, J Wierzba…
American journal of medical genetics Part A, 2014•Wiley Online Library
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and
further evidence of heterogeneity - Gos - 2014 - American Journal of Medical Genetics Part A -
Wiley Online Library Skip to Article Content Skip to Article Information Wiley Online Library
Wiley Online Library Search within Search term Advanced Search Citation Search Search term
Advanced Search Citation Search Login / Register Navigation Bar Menu Home Home About
Overview Journal Metrics Contact Editorial Board OA Advantages Advertise Permissions …
Noonan syndrome (NS, OMIM 163950) is a common (1: 1,000–2,500 newborns) inherited developmental disorder that in majority of cases presents with dysmorphic facial features, heart defects, and short stature, as well as skeletal defects, delayed psychomotor
Wiley Online Library
Show moreShow less
Save Cite Cited by 52 Related articles All 6 versions