Condition: Bruck syndrome 2


rs121434459 in PLOD2 gene and Bruck syndrome 2 PMID 12881513 2003 Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.

PMID 15523624 2004 Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.