title: A novel mutation in two families with pycnodysostosis.
authors.affiliation: Departments of Medical Genetics Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: Taha R
authors.initials: TR
authors.lastname: Ozdemir
authors.forename: Tahir
authors.initials: T
authors.lastname: Atik
authors.forename: Emin
authors.initials: E
authors.lastname: Karaca
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Ozgur
authors.initials: O
authors.lastname: Cogulu
mesh_terms: D000293:Adolescent; D001857:Bone Matrix / Q000378:metabolism; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D056657:Cathepsin K / Q000235:genetics*; D002675:Child, Preschool; D024042:Collagen Type I / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D010010:Osteoclasts / Q000166:cytology / Q000378:metabolism; D015676:Osteonectin / Q000378:metabolism; D053495:Osteopontin / Q000378:metabolism; D058631:Pycnodysostosis / Q000235:genetics*; D011859:Radiography
chemical_list: D024042:Collagen Type I; D015676:Osteonectin; D053495:Osteopontin; C534130:CTSK protein, human; D056657:Cathepsin K