WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Author

LAINE, Christine M^{1 12} ; KYU SANG JOENG¹⁴ ; NIEMINEN-PIHALA, Vappu⁸ ; ARONEN, Mira¹ ; LAINE, Tero¹³ ; KRÖGER, Heikki¹¹ ; COLE, William G¹⁸ ; LEHESJOKI, Anna-Elina^{1 3 4 5} ; NEVAREZ, Lisette¹⁹ ; KRAKOW, Deborah^{20 21} ; CURRY, Cynthia J. R^{22 23} ; COHN, Daniel H^{19 20} ; CAMPEAU, Philippe M¹⁴ ; GIBBS, Richard A¹⁴ ; LEE, Brendan H^{14 17} ; MAKITIE, Outi^{1 6 7} ; KIVIRANTA, Riku^{10 8} ; TARKKONEN, Kati⁸ ; GROVER, Monica¹⁴ ; LU, James T^{15 16} ; PEKKINEN, Minna¹ ; WESSMAN, Maija^{1 2} ; HEINO, Terhij⁹
[1] Folkhälsan Institute of Genetics, University of Helsinki, Finland
[2] Institute for Molecular Medicine Finland, University of Helsinki, Finland
[3] Haartman Institute, Department of Medical Genetics, University of Helsinki, Finland
[4] Research Programs Unit, Molecular Neurology, University of Helsinki, Finland
[5] Neuroscience Center, University of Helsinki, Finland
[6] Department of Pediatrics, University of Helsinki, Finland
[7] Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland
[8] Department of Medical Biochemistry and Genetics and Department of Medicine, University of Turku, Finland
[9] Department of Cell Biology and Anatomy, University of Turku, Finland
[10] Department of Medicine, Turku University Hospital, Turku, Finland
[11] Bone and Cartilage Research Unit, University of Eastern Finland, and Kuopio University Hospital, Kuopio, Finland
[12] Department of Endocrinology, Institute of Medicine, Sahlgrenska University Hospital and University of Gothenburg, Gothenburg, Sweden
[13] Department of Orthopedics, Institute of Clinical Sciences, Sahlgrenska University Hospital and University of Gothenburg, Gothenburg, Sweden
[14] Department of Molecular and Human Genetics, Baylor College of Medicine, Canada
[15] Human Genome Sequencing Center, Baylor College of Medicine, Canada
[16] Department of Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Canada
[17] Howard Hughes Medical Institute, Houston, Canada
[18] Division of Pediatric Surgery, University of Alberta, Edmonton, Canada
[19] Departments of Molecular, Cell, and Developmental Biology, University of California―Los Angeles, Los Angeles, United States
[20] Orthopaedic Surgery, University of California―Los Angeles, Los Angeles, United States
[21] Human Genetics, University of California―Los Angeles, Los Angeles, United States
[22] University of California―San Francisco, San Francisco, United States
[23] Genetic Medicine Central California, Fresno California, United States

Source

The New England journal of medicine. 2013, Vol 368, Num 19, pp 1809-1816, 8 p ; ref : 22 ref

CODEN

NEJMAG

ISSN

0028-4793

Scientific domain

General medicine general surgery

Publisher

Massachusetts Medical Society, Waltham, MA

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Age apparition Génétique Mutation Médecine Ostéogenèse imparfaite Ostéoporose Précoce Maladie héréditaire Ostéochondrodysplasie Pathologie du système ostéoarticulaire

Keyword (en)

Age of onset Genetics Mutation Medicine Osteogenesis imperfecta Osteoporosis Early Genetic disease Osteochondrodysplasia Diseases of the osteoarticular system

Keyword (es)

Edad aparición Genética Mutación Medicina Osteogénesis imperfecta Osteoporosis Precoz Enfermedad hereditaria Osteocondrodisplasia Sistema osteoarticular patología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B01 General aspects

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15A Osteoporosis. Osteomalacia. Paget disease

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations

Discipline

Generalities in medical sciences Osteoarticular pathology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

27275148

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS