A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
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DOI: 10.3389/fped.2019.00245
Abstract: Background: Progressive pseudorheumatoid dysplasia (PPRD) inherited in an autosomal recessive fashion, is a disabling disease, characterized by platyspondyly, irregularities of the vertebral bodies, narrowing of the intervertebral discs and intraarticular spaces, widening of the epiphysis-metaphysis,… read more here.
Keywords: progressive pseudorheumatoid; novel homozygous; dysplasia pprd; homozygous frameshift ... See more keywords