Article ID Journal Published Year Pages File Type
5891778 Bone 2011 4 Pages PDF
Abstract
► A novel mutation in ENPP1 gene was found in a patient with hypophosphatemic rickets. ► This mutation caused skipping of exon 21 and a premature stop codon in exon 22. ► She also showed widespread ossification of posterior longitudinal ligament. ► Enpp1 knockout mouse is a model of ossification of posterior longitudinal ligament. ► This case shows the role of ENPP1 in phosphate metabolism and ectopic ossification.
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Life Sciences Biochemistry, Genetics and Molecular Biology Developmental Biology
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A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene
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