Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
PXE-like disorder with multiple coagulation factor deficiency is autosomal recessive and caused by mutations of the GGCX gene.
| 1. |
Li Q et al. (2009) Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 
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| 2. |
Vanakker OM et al. (2007) Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.
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| 3. |
Rongioletti F et al. (1989) Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors.
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| 4. |
Macmillan DC et al. (1971) Pseudoxanthoma elasticum and a coagulation defect.
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| 5. |
OMIM.ORG article Omim 610842
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