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Clin Orthop Relat Res. 2000 Oct;(379 Suppl):S40-54.

Human genetic insights into skeletal development, growth, and homeostasis.

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  • 1Case Western Reserve University School of Medicine and University Hospitals of Cleveland, OH 44106, USA.


This current study describes how human genetic approaches are used to identify and understand the roles of genes and their protein products, during skeletal development, growth, and homeostasis. Searches for the genes responsible for brachydactyly, symphalangism, spondyloepiphyseal dysplasia, and camptodactyly-arthropathy syndrome are presented to exemplify these approaches. The important role of the orthopaedic surgeon in this process is discussed.

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