## Abstract Reports on Noonan syndrome (NS) have documented multiple types of coagulation defects and bleeding diathesis, and a wide range of clinical presentations. Early studies suggested that a large proportion of NS patients have coagulation defects, whereas more recent reports indicate low rat
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation
β Scribed by Elisabetta Mascheroni; M. Cristina Digilio; Elisabetta Cortis; Rita Devito; Anna Sarkozy; Rossella Capolino; Bruno Dallapiccola; Alberto G. Ugazio
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 100 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, facial dysmorphism, short and/or webbed neck, heart defects, and cryptorchidism in males. The gene responsible for the disorder (__PTPN11__) was recently identified, and explains 30β50% of the cases clinica
## Abstract Noonan syndrome is a genetic condition characterized by congenital heart defects, short stature, and characteristic facial features. Familial or de novo mutations in __PTPN11__, __RAF1__, __SOS1__, __KRAS__, and __NRAS__ are responsible for 60β75% of the cases, thus, additional genes ar