title: Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
abstract: Hajdu-Cheney syndrome (HCS) is a rare genetic disorder characterised by acro-osteolysis, skull deformation and generalised osteoporosis. Recently, truncating mutations in the last exon of NOTCH2, a protein-coding gene, were found to be responsible. We present the case of a young woman with HCS in whom clinical and radiologic diagnosis was confirmed with DNA tests.
authors.affiliation: Laboratory for Research of Musculoskeletal System Theodoros Garofalidis, University of Athens, KAT hospital, Athens, Greece. ipstathopoulos@gmail.com
authors.forename: Ioannis P
authors.initials: IP
authors.lastname: Stathopoulos
authors.forename: George
authors.initials: G
authors.lastname: Trovas
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Lampropoulou-Adamidou
authors.forename: Theodora
authors.initials: T
authors.lastname: Koromila
authors.forename: Panagoula
authors.initials: P
authors.lastname: Kollia
authors.forename: Nikolaos A
authors.initials: NA
authors.lastname: Papaioannou
authors.forename: George
authors.initials: G
authors.lastname: Lyritis
mesh_terms: D000328:Adult; D005260:Female; D031845:Hajdu-Cheney Syndrome / Q000150:complications / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010024:Osteoporosis / Q000150:complications / Q000235:genetics*; D051883:Receptor, Notch2 / Q000235:genetics*
chemical_list: C497764:NOTCH2 protein, human; D051883:Receptor, Notch2