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Article

Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.

Acta medica portuguesa - 1 Jan 2000

Rebelo Marta, Ramos Leonor, Lima Jandira, Vieira J Diniz, Tavares Purificação, Teixeira Luísa, Matos Albuquerque, Costa J Nascimento

Abstract excerpt

The Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. An awareness of the disease is of vital importance for the optimal outcome, since the affected individuals have a high risk of vascular, intestinal and uterine rupture. It's a disease with great clinical...

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PMID: 22713205

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Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.PMID 22713205Read ↗

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Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

Ehlers-Danlos syndrome type IVSemantic proximity Read ↗

Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.Semantic proximity Read ↗

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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.Semantic proximity Read ↗

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