Litcius/Paper detail

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Bonnard, Pelin Özlem Şimşek‐Kiper, Elif Yılmaz Güleç, L. Essaddam, Gülen Eda Ütine, Ingrid G. Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E.L.M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, S. Ben Bêcher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Hélène Cavé, Martin Zenker, Marco Tartaglia

2021The American Journal of Human Genetics80 citationsDOIOpen Access PDF

Topics & Concepts

Noonan syndromeCostello syndromePhenotypeMAPK/ERK pathwayBiologyLoss functionShort statureGene knockdownZebrafishGeneticsMutationSignal transductionDownregulation and upregulationCell biologyCancer researchEndocrinologyGeneKRASProtein Tyrosine PhosphatasesGalectins and Cancer BiologyLysosomal Storage Disorders Research