Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Generalized arterial calcification of infancy 2 is an autosomal recessive disorder caused by mutations of the ABCC6 gene. Along with calcification pseudoxanthomas may be present.
Generalized arterial calcification of infancy
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Generalized arterial calcification of infancy 1
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Generalized arterial calcification of infancy 2
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ABCC6
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| 1. |
Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. 
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| 2. |
Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
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| 3. |
Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
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| 4. |
Cheng KS et al. (2005) Generalized arterial calcification of infancy: different clinical courses in two affected siblings.
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| 5. |
OMIM.ORG article Omim 614473
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