Newly Found vEDS Mutation Causes Severe Joint, Muscle Involvement

Newly Found vEDS Mutation Causes Severe Joint, Muscle Involvement

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Newly Found vEDS Mutation Causes Severe Joint, Muscle Involvement

A new mutation in the most common gene causing vascular Ehlers–Danlos syndrome (vEDS) — COL3A1 — was found to lead to severe involvement of the joints and muscles, a case study reported. The findings provide insight into mutations causing the disease and expand clinicians’ understanding of “the phenotypic spectrum of vEDS,” according to the researchers. “The reaching of a definite diagnosis is very important for patients, particularly those with atypical clinical presentations, to avoid inappropriate…

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