Elizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, Beth Stronach, April Anschutz, Sarah C Borrie, Benjamin Briggs, Emma Burkitt-Wright, Pau Castel, Ion C Cirstea, Fieke Draaisma, Michelle Ellis, Vanessa S Fear, Megan N Frone, Elisabetta Flex, Bruce D Gelb, Tamar Green, Karen W Gripp, Sattar Khoshkhoo, Mark W Kieran, Karolin Kleemann, Bonita P Klein-Tasman, Maria I Kontaridis, Paul Kruszka, Chiara Leoni, Clifford Z Liu, Nadia Merchant, Pilar L Magoulas, Christopher Moertel, Carlos E Prada, Katherine A Rauen, Renée Roelofs, Rodrigue Rossignol, Christine Sevilla, Gigi Sevilla, Ryan Sheedy, Elliot Stieglitz, Daochun Sun, Dagmar Tiemens, Forest White, Ellen Wingbermühle, Cordula Wolf, Martin Zenker, Gregor Andelfinger
Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. With increasing global recognition of these conditions, the 8th International RASopathies Symposium spotlighted global perspectives on clinical care and research, including strategies for building international collaborations and developing diverse patient cohorts in anticipation of interventional trials...
November 15, 2023: American Journal of Medical Genetics. Part A