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Genotype-phenotype correlations in Noonan syndrome

✍ Scribed by Martin Zenker; Gernot Buheitel; Ralf Rauch; Rainer Koenig; Kirstin Bosse; Wolfram Kress; Hans-Ulrich Tietze; Helmuth-Guenther Doerr; Michael Hofbeck; Helmut Singer; André Reis; Anita Rauch


Book ID
116682490
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
391 KB
Volume
144
Category
Article
ISSN
1097-6833

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✍ Francesca Lepri; Alessandro De Luca; Lorenzo Stella; Cesare Rossi; Giuseppina Ba 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 588 KB

Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others