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Article

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

European journal of medical genetics - 1 Jan 2018

Colombi Marina, Dordoni Chiara, Cinquina Valeria, Venturini Marina, Ritelli Marco

Abstract excerpt

The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large...

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PMID: 29024828
DOI: 10.1016/j.ejmg.2017.10.005

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