The Ehlers–Danlos syndromes, rare types

F. Brady, Angela; Demirdas, Serwet; Fournel‐Gigleux, Sylvie; Ghali, Neeti; Giunta, Cecilia; Kapferer‐Seebacher, Ines; Kosho, Tomoki; Mendoza‐Londono, Roberto; Pope, Michael; Rohrbach, Marianne; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; C. Voermans, Nicol; Zschocke, Johannes; Malfait, Fransiska

doi:10.1002/ajmg.c.31550

Public

The Ehlers–Danlos syndromes, rare types

Published in American Journal of Medical Genetics Part C Seminars in Medical Genetics • Mar 1, 2017

Authors:

Angela F. Brady

Serwet Demirdas

Sylvie Fournel‐Gigleux

Abstract

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, h...

Subject

Joint hypermobility

Ehlers–Danlos syndrome

Genetic heterogeneity

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