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The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family) Nemec SF; Cohn DH; Krakow D; Funari VA; Rimoin DL; Lachman RSPediatr Radiol 2012[Jan]; 42 (1): 15-23The spondylo and spondylometaphyseal dysplasias (SMDs) are characterized by vertebral changes and metaphyseal abnormalities of the tubular bones, which produce a phenotypic spectrum of disorders from the mild autosomal-dominant brachyolmia to SMD Kozlowski to autosomal-dominant metatropic dysplasia. Investigations have recently drawn on the similar radiographic features of those conditions to define a new family of skeletal dysplasias caused by mutations in the transient receptor potential cation channel vanilloid 4 (TRPV4). This review demonstrates the significance of radiography in the discovery of a new bone dysplasia family due to mutations in a single gene.|*DNA Mutational Analysis[MESH]|Genetic Predisposition to Disease/*genetics[MESH]|Humans[MESH]|Multigene Family/*genetics[MESH]|Polymorphism, Single Nucleotide/*genetics[MESH]|Radiography[MESH]|Spondylosis/*diagnostic imaging/*genetics[MESH]|TRPV Cation Channels/*genetics[MESH] |
