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

This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis.
PMID: 29024828 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - October 9, 2017 Category: Genetics & Stem Cells Authors: Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M Tags: Eur J Med Genet Source Type: research