The Ehlers–Danlos syndromes, rare types

@article{Brady2017TheES,
  title={The Ehlers–Danlos syndromes, rare types},
  author={Angela F Brady and Serwet Demirdas and Sylvie Fournel‐Gigleux and Neeti Ghali and Cecilia Giunta and Ines Kapferer-Seebacher and Tomoki Kosho and Roberto Mendoza-Londono and Michael Pope and Marianne Rohrbach and Tim Van Damme and Anthony Vandersteen and Caroline van Mourik and Nicol C. Voermans and Johannes Zschocke and Fransiska Malfait},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  year={2017},
  volume={175},
  pages={115 - 70}
}
  • A. BradyS. Demirdas F. Malfait
  • Published 1 March 2017
  • Medicine, Biology
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen… 

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