. . . . . . . . . . . . "[We have characterized a patient with the phenotype of Ehlers-Danlos syndrome type VIA (EDS VIA: kyphoscoliotic form), accompanied by the unique feature of cystic malformations of the meninges, to be homozygous for a large duplication of 8.9 kb in the lysyl hydroxylase 1 (LH1) gene that is the cause of severely decreased levels of LH activity in her skin fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:38:22+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .