Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Karim KouzChristina LissewskiStephanie SprangerDiana MitterAngelika RiessVanesa Lopez-GonzalezSabine LüttgenHatip AydinFlorian von DeimlingChristina EversAndreas HahnMaja HempelUlrike IssaAnne-Karin KahlertAdrian LiebPablo Villavicencio-LoriniMaria Juliana Ballesta-MartinezSheela NampoothiriAngela Ovens-RaederAlena PuchmajerováRobin SatanovskijHeide SeidelStephan UnkelbachBernhard ZabelKerstin KutscheMartin ZenkerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
RIT1 is one of the major genes for NS. The RIT1-associated phenotype differs gradually from other NS subtypes, with a high prevalence of cardiovascular manifestations, especially hypertrophic cardiomyopathy, and lymphatic problems.Genet Med 18 12, 1226-1234.