Mutation of the gene for lysyl hydroxylase in the kyphoscoliosis type Ehlers-Danlos syndrome (ED type VI) causes weakness of bones and cutis laxa because of abnormal collagen

Question

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Lysyl hydroxylase is an enzyme that is essential for cross-linking of collagen. Without it, the collagen never achieves full structural integrity and strength; accordingly, the bones are weak and prone to deformation, whereas the skin becomes hyperextensible ("cutis laxa").

Mutation of the Gene for Lysyl Hydroxylase in the Kyphoscoliosis