Article
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
Clinical genetics - 1 Aug 2012
Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander J J P, Malfait F, Staal H, ten Have L C, Blaauw J, Roggeveen H C J, Krakow D, De Paepe A, van Steensel M A M, Pals G, Graham J M, Schrander-Stumpel C T R M
Abstract excerpt
The Ehlers-Danlos syndromes (EDS) form a clinically and genetically heterogeneous group of inherited connective-tissue disorders characterized by joint hypermobility, tissue fragility and skin abnormalities. Six subtypes have been well characterized based on clinical features and molecular genetic abnormalities. The arthrochalasia type EDS (formerly types VIIA and B) is characterized by severe generalized joint...
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