Case report: mild phenotype of a patient with vascular ehlers – danlos syndrome and col3a1 duplication mutation without alteration in the [gly-x-y] repeat sequence

HIGHLIGHTS

• who: Vascular Ehlers-Danlos syndrome et al. from the Japan United University, United have published the research: Case report: Mild phenotype of a patient with vascular Ehlers - Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence, in the Journal: (JOURNAL)
• what: The authors report the case of a patient with vEDS and a unique novel duplication mutation without alteration in the triplet repeat sequence. This study has its limitations and cannot go beyond the hypothesis. In the present study, the analyses has indicated that the identified mutations, which are . . .
  

   

  

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