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In conclusion, we have expanded the clinical phenotype of this disorder by describing a much milder phenotypic and ultrastructural variant of the dermatosparaxis type of EDS, highlighted the necessity of molecular diagnosis and the utility of biochemical collagen analysis, and laid the foundation for an update of the clinical criteria

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[DOI] [PubMed] [Google Scholar] 96.Mensink G.B.M., Fletcher R., Gurinovic M., Huybrechts I., Lafay L., Serra-Majem L., Szponar L., Tetens I., Verkaik-Kloosterman J., Baka A., et al