A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate

In this study, a novel splice site mutation in ext2 was identified and suggested to be a pathogenic mutation of HME, which may expand the genetic etiology spectrum of HME and may be helpful for clinical genetic counseling and prenatal diagnosis.
Source: Genetics and Molecular Biology - Category: Genetics & Stem Cells Source Type: research