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Article

An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.

European journal of dermatology : EJD - 1 Jan 2000

Yeowell Heather N, Walker Linda C, Neumann Luitgard M

Abstract excerpt

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. Electrophoresis of full length cDNA for LH1,...

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PMID: 16172044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.PMID 16172044Read ↗

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Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).Semantic proximity Read ↗

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Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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