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 | ||||
Generalized arterial calcification of infancy 1 | ||||
Generalized arterial calcification of infancy 2 | ||||
ABCC6 | ||||
1. |
Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. |
2. |
Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. |
3. |
Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. |
4. |
Cheng KS et al. (2005) Generalized arterial calcification of infancy: different clinical courses in two affected siblings. |
5. |
OMIM.ORG article Omim 614473 |