Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
PXE-like disorder with multiple coagulation factor deficiency is autosomal recessive and caused by mutations of the GGCX gene.
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 [^]