title: MST1R mutation as a genetic cause of Lady Windermere syndrome.
authors.affiliation: Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.|Both authors contributed equally.
authors.forename: Katharina L
authors.initials: KL
authors.lastname: Becker
authors.affiliation: Dept of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.|Both authors contributed equally.
authors.forename: Peer
authors.initials: P
authors.lastname: Arts
authors.affiliation: Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Martin
authors.initials: M
authors.lastname: Jaeger
authors.affiliation: Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Theodorus S
authors.initials: TS
authors.lastname: Plantinga
authors.affiliation: Dept of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Christian
authors.initials: C
authors.lastname: Gilissen
authors.affiliation: Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Arjan
authors.initials: A
authors.lastname: van Laarhoven
authors.affiliation: Dept of Microbiology, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Jakko
authors.initials: J
authors.lastname: van Ingen
authors.affiliation: Dept of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.|Dept of Clinical Genetics, GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
authors.affiliation: Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Leo A B
authors.initials: LA
authors.lastname: Joosten
authors.affiliation: Dept of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Alexander
authors.initials: A
authors.lastname: Hoischen
authors.affiliation: Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Mihai G
authors.initials: MG
authors.lastname: Netea
authors.affiliation: Dept of Medicine and Academic Affairs, National Jewish Health, Denver, CO, USA.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Iseman
authors.affiliation: Dept of Medicine and Academic Affairs, National Jewish Health, Denver, CO, USA.|Dept of Medicine, Denver Veterans Affairs Medical Center, Denver, CO, USA.|Division of Pulmonary Sciences and Critical Care Medicine, University of Colorado Anschutz Medical Campus, Denver, CO, USA.
authors.forename: Edward D
authors.initials: ED
authors.lastname: Chan
authors.affiliation: Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands frank.vandeveerdonk@radboudumc.nl.
authors.forename: Frank L
authors.initials: FL
authors.lastname: van de Veerdonk
mesh_terms: D001835:Body Weight; D005192:Family Health; D005260:Female; D005660:Funnel Chest / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007371:Interferon-gamma / Q000378:metabolism; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D015269:Mycobacterium avium Complex; D015270:Mycobacterium avium-intracellulare Infection / Q000150:complications; D010375:Pedigree; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D012600:Scoliosis / Q000150:complications / Q000235:genetics*; D013577:Syndrome
chemical_list: D007371:Interferon-gamma; C080835:RON protein; D020794:Receptor Protein-Tyrosine Kinases