TRPV4-associated skeletal dysplasias.

Abstract excerpt

Dominant mutations in the TRPV4 gene result in a bone dysplasia family and form a continuous phenotypic spectrum that includes, in decreasing severity, lethal, and nonlethal metatropic dysplasia (MD), spondylometaphyseal dysplasia Kozlowski type (SMDK), and autosomal dominant brachyolmia. Several rare variant phenotypes that have some overlap but deviate in some ways from the general pattern have also been...

Topics

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• Bone Diseases, Developmental
• TRPV4 gene
• Genes, Dominant
• Mutation
• Phenotype