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Spondylometaphyseal Dysplasia Kozlowski Type
A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that is caused by heterozygous mutation in the TRPV4 gene on chr
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Overview
A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that is caused by heterozygous mutation in the TRPV4 gene on chr
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