Article
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2016
Van Damme Tim, Colige Alain, Syx Delfien, Giunta Cecilia, Lindert Uschi, Rohrbach Marianne, Aryani Omid, Alanay Yasemin, Simsek-Kiper Pelin Özlem, Kroes Hester Y, Devriendt Koen, Thiry Marc, Symoens Sofie, De Paepe Anne, Malfait Fransiska
Abstract excerpt
PURPOSE: The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the aminoterminal propeptide domain of types I, II, and III procollagen. Only 10 EDS dermatosparaxis patients have been reported, all presenting a recognizable phenotype with characteristic facial gestalt, extreme skin fragility and...
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