Article
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.
European journal of medical genetics - 1 Jan 2018
Colombi Marina, Dordoni Chiara, Cinquina Valeria, Venturini Marina, Ritelli Marco
Abstract excerpt
The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large...
Topics
- Collagen Type V
- Ehlers-Danlos Syndrome
- Female
- Humans
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- RNA Splicing
- Young Adult