Molecular genetics in classic Ehlers-Danlos syndrome.

doi:10.1002/ajmg.c.30070

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Article

Molecular genetics in classic Ehlers-Danlos syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2005

Malfait Fransiska, De Paepe Anne

Abstract excerpt

Classic Ehlers-Danlos syndrome is a heritable disorder of connective tissue that is characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. Mutations in the COL5A1 and the COL5A2 gene, encoding the alpha1 and the alpha2-chain of type V collagen respectively, are identified in approximately 50% of...

Topics

Collagen Type V
Ehlers-Danlos Syndrome
Genotype
Humans
Mutation
Phenotype

Source

Open in PubMed

Identifiers

PMID: 16278879
DOI: 10.1002/ajmg.c.30070

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