Ehlers-Danlos syndrome type VII: phenotype and genotype.

doi:10.1007/BF00371566

Back to search

Article

Ehlers-Danlos syndrome type VII: phenotype and genotype.

Archives of dermatological research - 1 Jan 1994

Lehmann H W, Mundlos S, Winterpacht A, Brenner R E, Zabel B, Müller P K

Abstract excerpt

A patient suffering from a severe form of Ehlers-Danlos syndrome is presented (EDS type VII). The presence of bilateral congenital hip dislocation, generalized joint hypermobility and a soft hyperelastic skin with abnormal scarring suggested a specific collagen type I defect. SDS-PAGE analysis of...

Topics

Base Sequence
Child, Preschool
Collagen
Ehlers-Danlos Syndrome
Exons
Genotype
Humans
Male
Molecular Sequence Data
Mutation
Phenotype

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.