Nosology and classification of genetic skeletal disorders: 2015 revision

Author:

Bonafe Luisa1,Cormier-Daire Valerie2,Hall Christine3,Lachman Ralph4,Mortier Geert5,Mundlos Stefan678,Nishimura Gen9,Sangiorgi Luca10,Savarirayan Ravi11,Sillence David12,Spranger Jürgen13,Superti-Furga Andrea14,Warman Matthew15,Unger Sheila16

Affiliation:

1. Centre des Maladies Moléculaires CHUV; University of Lausanne; Switzerland

2. IMAGINE Institute; Hôpital Necker Enfants Malade; Paris France

3. Department of Radiology; Great Ormond Street Hospital; London UK

4. International Skeletal Dysplasia Registry; University of California; Los Angeles California

5. Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium

6. Institute for Medical Genetics and Human Genetics; Charité Universitätsmedizin Berlin; Berlin Germany

7. Max Planck Institute for Molecular Genetics; Berlin Germany

8. Berlin-Brandenburg School for Regenerative Therapies (BSRT); Berlin Germany

9. Department of Radiology; Tokyo Metropolitan Children's Medical Center; Tokyo Japan

10. Department of Medical Genetics and Skeletal Rare Diseases; IRCCS Rizzoli Orthopaedic Institute (IOR); Bologna Italy

11. Murdoch Childrens Research Institute and University of Melbourne; Parkville Australia

12. Discipline of Genetic Medicine; The Children's Hospital at Westmead Clinical School; Sydney Medical School; University of Sydney; Head Connective Tissue Dysplasia Management Service; The Children's Hospital at Westmead; Sydney Australia

13. Sinzheim; Germany

14. Department of Pediatrics,; CHUV; University of Lausanne; Switzerland

15. Orthopaedic Research Laboratories; Boston Children's Hospital Boston

16. Medical Genetics Service,; CHUV; University of Lausanne; Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. International nomenclature of constitutional diseases of bones;Ann Radiol (Paris),1970

2. A nomenclature for constitutional (intrinsic) diseases of bones;J Pediatr,1971a

3. International nomenclature of constitutional bone diseases. Constitutional bone diseases without known pathogenesis;Arch Fr Pediatr,1971b

4. International nomenclature of constitutional diseases of bone: Revision-May 1977;Am J Med Genet,1979

5. International nomenclature of constitutional diseases of bone. Revision, May, 1983;Ann Radiol (Paris),1983

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