Article
The Ehlers-Danlos syndromes, rare types.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2017
Brady Angela F, Demirdas Serwet, Fournel-Gigleux Sylvie, Ghali Neeti, Giunta Cecilia, Kapferer-Seebacher Ines, Kosho Tomoki, Mendoza-Londono Roberto, Pope Michael F, Rohrbach Marianne, Van Damme Tim, Vandersteen Anthony, van Mourik Caroline, Voermans Nicol, Zschocke Johannes, Malfait Fransiska
Abstract excerpt
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...
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