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Collagens, modifying enzymes and their mutations in humans, flies and worms
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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
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Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition
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An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges is homozygous for a pathogenic seven exon duplication in the lysyl hydroxylase 1 gene; allelic frequency of the mutation
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Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year old girl
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Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome
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