The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Julia Brinkmann, Christina Lißewski, Valentina Pinna, Yoann Vial, Francesca Pantaleoni, Francesca Romana Lepri, Paola Daniele, Birutė Burnytė, Goran Čuturilo, Christine Fauth, Alper Gezdirici, Dieter Kotzot, Elif Yılmaz Güleç, Violeta Iotova, Denny Schanze, Francis Ramond, Markéta Havlovičová, Gülen Eda Ütine, Pelin Özlem Şimşek‐Kiper, Milena Stoyanova, Alain Verloès, Alessandro De Luca, Marco Tartaglia, Hélène Cavé, Martin Zenker
Topics & Concepts
Noonan syndromeMissense mutationGeneticsBiologyPTPN11Costello syndromeMedical geneticsZebrafishCraniofacialClinical significanceMutationGenetic heterogeneityDiseaseBioinformaticsGeneMedicineInternal medicinePhenotypeKRASProtein Tyrosine PhosphatasesGalectins and Cancer BiologyPeptidase Inhibition and Analysis