The Ehlers-Danlos syndrome type IV (vascular) is an autosomal dominant inherited disease that affects the connective tissue due to a defective synthesis of type III collagen. Genetic analysis for Ehlers-Danlos syndrome type IV is generally limited to COL3A1 genetic sequencing. The MHI Molecular Diagnosis Laboratory only reports the COL3A1 gene for this profile.
2010, PMID: 20233780
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