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Ehlers-Danlos syndrome type VIIB, autosomal recessive

Pathology: - connective tissue disorder - mention of procollagen N-proteinase deficiency Genetics: - associated withdefects in COL1A2 Clinical manifestations: - hyperextensible skin - atrophic cutaneous scars due to tissue fragility - joint hyperlaxity - bilateral congenital hip dislocation - recurrent partial dislocations

General

Ehlers-Danlos syndrome type VII

Database Correlations

OMIM correlations

References

  1. OMIM :accession 130060