Article
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
European journal of human genetics : EJHG - 1 Mar 2021
Brinkmann Julia, Lissewski Christina, Pinna Valentina, Vial Yoann, Pantaleoni Francesca, Lepri Francesca, Daniele Paola, Burnyte Birute, Cuturilo Goran, Fauth Christine, Gezdirici Alper, Kotzot Dieter, Güleç Elif Yılmaz, Iotova Violeta, Schanze Denny, Ramond Francis, Havlovicová Markéta, Utine Gulen Eda, Simsek-Kiper Pelin Ozlem, Stoyanova Milena, Verloes Alain, De Luca Alessandro, Tartaglia Marco, Cavé Hélène, Zenker Martin
Abstract excerpt
The RASopathies are a group of clinically and genetically heterogeneous developmental disorders caused by dysregulation of the RAS/MAPK signalling pathway. Variants in several components and regulators of this pathway have been identified as the pathogenetic cause. In 2015, missense variants in A2ML1 were reported in three unrelated families with clinical diagnosis of Noonan syndrome (NS) and a zebrafish model...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.