Article
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
European journal of human genetics : EJHG - 1 Jan 2021
Lissewski Christina, Chune Valérie, Pantaleoni Francesca, De Luca Alessandro, Capri Yline, Brinkmann Julia, Lepri Francesca, Daniele Paola, Leenders Erika, Mazzanti Laura, Scarano Emanuela, Radio Francesca Clementina, Kutsche Kerstin, Kuechler Alma, Gérard Marion, Ranguin Kara, Legendre Marine, Vial Yoann, van der Burgt Ineke, Rinne Tuula, Andreucci Elena, Mastromoro Gioia, Digilio Maria Cristina, Cave Hélène, Tartaglia Marco, Zenker Martin
Abstract excerpt
RASopathies are caused by variants in genes encoding components or modulators of the RAS/MAPK signaling pathway. Noonan syndrome is the most common entity among this group of disorders and is characterized by heart defects, short stature, variable developmental delay, and typical facial features. Heterozygous variants in SOS2, encoding a guanine nucleotide exchange factor for RAS, have recently been identified in...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Lymphatic System
- Male