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lysyl hydroxylase 3 deficiency; bone fragility with contractures, arterial rupture & deafness
Pathology:
- failure of lysyl hydroxylation & hydroxylysyl carbohydrate addition
- especially involves COL2A1
Genetics:
- associated with defects in PLOD3
Clinical manifestations:
- congenital malformations severely affecting many tissues & organs
- features of several collagen disorders
- bone fragility
- contractures
- arterial rupture
- deafness
General
genetic disease of connective tissue
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 612394
References
OMIM :accession 612394