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Article

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

American journal of medical genetics. Part A - 1 Jun 2012

Mendoza-Londono Roberto, Chitayat David, Kahr Walter H A, Hinek Aleksander, Blaser Susan, Dupuis Lucie, Goh Elaine, Badilla-Porras Ramses, Howard Andrew, Mittaz Laureane, Superti-Furga Andrea, Unger Sheila, Nishimura Gen, Bonafe Luisa

Abstract excerpt

We report on a consanguineous, Afghani family with two sisters affected with characteristic facial features, multiple contractures, progressive joint and skin laxity, hemorrhagic diathesis following minor trauma and multisystem fragility-related manifestations suggestive of a diagnosis of musculocontractural Ehlers-Danlos syndrome (EDS). This novel form of connective tissue disorder was recently reported in...

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Identifiers

PMID: 22581468
DOI: 10.1002/ajmg.a.35339

Genes

CHST14

Provenance

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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Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.PMID 22581468Read ↗

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