Atsuhiko Handa, Yuko Tsujioka, Gen Nishimura, Taiki Nozaki, Tatsuo Kono, Masahiro Jinzaki, Taylor Harms, Susan A Connolly, Takashi Shawn Sato, Yutaka Sato
RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway...
May 2024: Radiographics: a Review Publication of the Radiological Society of North America, Inc