PXE-like disorder with multiple coagulation factor deficiency is autosomal recessive and caused by mutations of the GGCX gene.
|Disturbances of vitamin K metabolism|
|Combined deficiency of vitamin K-dependent clotting factors type 1|
|Combined deficiency of vitamin K-dependent clotting factors type 2|
|Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|
Li Q et al. (2009) Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
Vanakker OM et al. (2007) Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.
Rongioletti F et al. (1989) Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors.
Macmillan DC et al. (1971) Pseudoxanthoma elasticum and a coagulation defect.
OMIM.ORG articleOmim 610842