Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing
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DOI: 10.3346/jkms.2020.35.e96
Abstract: Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl… read more here.
Keywords: danlos syndrome; rare cases; kyphoscoliotic ehlers; ehlers danlos ... See more keywords