The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation.

The skeletal dysplasias are rare and extremely heterogeneous group of developmental abnormalities. The genetic etiology of approximately 500 skeletal diseases has been identified, and molecular mechanism of all the remaining dysplasias is unclear. Recently, identification of numerous genes implicated in genetic disorders helped in the understanding of the pathophysiology of various conditions. Skeletal dysplasias are considered as good models to illustrate these scientific advances. Further advances had allowed new therapeutic approaches for several conditions, whether they are targeted to specific genes, gene products, or pathways and processes that are altered by the gene mutations. Here we report the first turkish family with lower limb anomalies and NPR2 gene mutations. [ABSTRACT FROM AUTHOR]

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