Case Report Supports Greater Diversity in Mutations Causing Classical EDS

Case Report Supports Greater Diversity in Mutations Causing Classical EDS

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Case Report Supports Greater Diversity in Mutations Causing Classical EDS

A type of mutation not usually considered when screening possible cases of classical Ehlers–Danlos syndrome (EDS) was found to underlie the disease in a child whose parents did not carry the mutation. The findings call for a broadening of the portfolio of mutations in genetic testing, researchers said. The case report, “Clinical and genetic analysis of classical Ehlers–Danlos syndrome patient caused by synonymous mutation in COL5A2,” was published in the journal Molecular Genetics & Genomic…

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