Nosology and classification of genetic skeletal disorders: 2010 revision
Howard Hughes Medical Institute · Orthopaedic Research Laboratories · +19 more institutions
Abstract
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology.…
Citation impact
- FWCI
- 53.27
- Percentile
- 100%
- References
- 23
Authors
17- MLMatthew L. WarmanCorresponding
Howard Hughes Medical Institute, Orthopaedic Research Laboratories
- VCValérie Cormier‐Daire
Hôpital Necker-Enfants Malades, Inserm, Université Paris Cité
- CMChristine M Hall
University of London
- DKDeborah Krakow
Cedars-Sinai Medical Center
- RLRalph Lachman
Cedars-Sinai Medical Center
Topics & keywords
- Nosology
- Molecular genetics
- Bioinformatics
- Medicine
- Biology
- Computational biology
- Genetics
- Pathology