title: Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Gos
authors.forename: Somayyeh
authors.initials: S
authors.lastname: Fahiminiya
authors.forename: Jarosław
authors.initials: J
authors.lastname: Poznański
authors.forename: Jakub
authors.initials: J
authors.lastname: Klapecki
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Piotrowicz
authors.forename: Jolanta
authors.initials: J
authors.lastname: Wierzba
authors.forename: Renata
authors.initials: R
authors.lastname: Posmyk
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
authors.forename: Jacek
authors.initials: J
authors.lastname: Majewski
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D018740:Genetic Heterogeneity; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009634:Noonan Syndrome / Q000235:genetics*; D018631:ras Proteins / Q000235:genetics*
chemical_list: C486776:RIT1 protein, human; D018631:ras Proteins
keywords: Noonan syndrome; RAS/MAPK pathway; RASopathy; RIT1; whole exome sequencing