title: Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.
authors.affiliation: Departments of Genetics Pediatrics Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine Department of Medicine, and UAB Osteoporosis Prevention and Treatment Clinic, Division of Clinical Immunology and Rheumatology, the University of Alabama at Birmingham, Birmingham, Alabama, USA Research Centre of Ste-Justine Hospital, Department of Medicine, University of Montreal Department of Medicine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Maria
authors.initials: M
authors.lastname: Descartes
authors.forename: Kitiwan
authors.initials: K
authors.lastname: Rojnueangnit
authors.forename: Laura
authors.initials: L
authors.lastname: Cole
authors.forename: Amelia
authors.initials: A
authors.lastname: Sutton
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Morgan
authors.forename: Lysanne
authors.initials: L
authors.lastname: Patry
authors.forename: Mark E
authors.initials: ME
authors.lastname: Samuels
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D031845:Hajdu-Cheney Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D011859:Radiography; D051883:Receptor, Notch2 / Q000235:genetics*
chemical_list: C497764:NOTCH2 protein, human; D051883:Receptor, Notch2