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  2. Ehlers-Danlos syndrome dermatosparaxis type

Ehlers-Danlos syndrome dermatosparaxis type

Definition:

Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2, encoding procollagen N-endopeptidase.

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