Ehlers-Danlos syndrome type VI : lysyl hydroxylase deficiency due to a novel point mutation (W612C)

Ehlers-Danlos syndrome type VI (EDS VI) is a rare autosomal recessively inherited disease of connective tissue. The characteristic symptoms are hyperflexibility of joints and hyperelasticity of skin together with marked scoliosis, ocular manifestations and involvement of the vascular system. The und...

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