Article
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
American journal of human genetics - 4 Nov 2021
Motta Marialetizia, Fasano Giulia, Gredy Sina, Brinkmann Julia, Bonnard Adeline Alice, Simsek-Kiper Pelin Ozlem, Gulec Elif Yilmaz, Essaddam Leila, Utine Gulen Eda, Guarnetti Prandi Ingrid, Venditti Martina, Pantaleoni Francesca, Radio Francesca Clementina, Ciolfi Andrea, Petrini Stefania, Consoli Federica, Vignal Cédric, Hepbasli Denis, Ullrich Melanie, de Boer Elke, Vissers Lisenka E L M, Gritli Sami, Rossi Cesare, De Luca Alessandro, Ben Becher Saayda, Gelb Bruce D, Dallapiccola Bruno, Lauri Antonella, Chillemi Giovanni, Schuh Kai, Cavé Hélène, Zenker Martin, Tartaglia Marco
Abstract excerpt
Upregulated signal flow through RAS and the mitogen-associated protein kinase (MAPK) cascade is the unifying mechanistic theme of the RASopathies, a family of disorders affecting development and growth. Pathogenic variants in more than 20 genes have been causally linked to RASopathies, the majority having a dominant role in promoting enhanced signaling. Here, we report that SPRED2 loss of function is causally...
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