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Article

Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.

European journal of human genetics : EJHG - 1 May 2024

Hadar Noam, Porgador Omri, Cohen Idan, Levi Hilla, Dolgin Vadim, Yogev Yuval, Sued-Hendrickson Sufa, Shelef Ilan, Didkovsky Elena, Eskin-Schwartz Marina, Birk Ohad S

Abstract excerpt

Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders caused by mutations in collagen and collagen-interacting genes. We delineate a novel form of EDS with vascular features through clinical and histopathological phenotyping and genetic studies of a three-generation pedigree, displaying an apparently autosomal dominant phenotype of joint hypermobility and frequent joint dislocations, atrophic...

Topics

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Ehlers-Danlos Syndrome
MMP2 gene
Heterozygote
Mice
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thrombospondins

Source

Open in PubMed Open full text

Identifiers

PMID: 38433265
DOI: 10.1038/s41431-024-01559-1
PMCID: PMC11061164

Genes

THBS2
MMP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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