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Ehlers-Danlos syndrome cardiac valvular form (EDSCV)

Pathology: - connective tissue disorder Genetics: - associated with defects in COL1A2 (autosomal recessive) Clinical manifestations: - hyperextensible skin - atrophic cutaneous scars due to tissue fragility - joint hyperlaxity - mitral valve prolapse & insufficiency - mitral regurgitation - aortic insufficiency

Database Correlations

OMIM 225320

References

  1. OMIM :accession 225320
  2. UniProt :accession P08123