Aims TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathybrachydactyly (FDAB),Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia,Kozlowski type (SMDK),Spondyloepip...
Aims TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathybrachydactyly (FDAB),Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia,Kozlowski type (SMDK),Spondyloepiphyseal dysplasia,Maroteaux type (SEDM),Metatropic dysplasia (MD) and Parastremmatic *** recruited 3 families (F1,2 and 3) with congenital scoliosis and 1 family (F4) with localized digital osteopetrosis,which had not been *** this study,we aimed to further analyze the clinical,biochemical and radiographic features of the 4 families and use the next generation sequencing system to obtain the accurate genetic diagnosis for these patients.
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