Article
The international consortium on the Ehlers-Danlos syndromes.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2017
Bloom Lara, Byers Peter, Francomano Clair, Tinkle Brad, Malfait Fransiska
Abstract excerpt
Since 1998, two developments have led to concerns that the EDS nosology needs to be substantially revised. The first development was the clinical and molecular characterization of several new EDS variants, which substantially broadened the molecular basis underlying EDS. The second was the growing concern, in the absence of genetic diagnosis, that the hypermobile type of EDS had an expanded phenotype, may be...
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