𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Tumor development in three patients with Noonan syndrome

✍ Scribed by Helen Fryssira; George Leventopoulos; Stavroula Psoni; Sophia Kitsiou-Tzeli; Nikolaos Stavrianeas; Emmanuel Kanavakis


Publisher
Springer
Year
2007
Tongue
English
Weight
391 KB
Volume
167
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Tumor spectrum in children with Noonan s
✍ Ellen Denayer; Koen Devriendt; Thomy de Ravel; Griet Van Buggenhout; Eric Smeets πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 185 KB

Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11, KRAS, SOS1, and RAF1. We performed SOS1, RAF1, BRAF, MEK1, and MEK2 mutation analysis in a cohort of 102 PTPN11-and KRAS-negative NS patients and found pathogenic SOS1 mutations in 10, RAF1 mutations in 4, and BRAF