Article
Nosology and classification of genetic skeletal disorders: 2010 revision.
American journal of medical genetics. Part A - 1 May 2011
Warman Matthew L, Cormier-Daire Valerie, Hall Christine, Krakow Deborah, Lachman Ralph, LeMerrer Martine, Mortier Geert, Mundlos Stefan, Nishimura Gen, Rimoin David L, Robertson Stephen, Savarirayan Ravi, Sillence David, Spranger Juergen, Unger Sheila, Zabel Bernhard, Superti-Furga Andrea
Abstract excerpt
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...
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