Generalized arterial calcification of infancy 1 is an autosomal recessive disorder caused by mutations of the ENPP1 gene. The clinical presentation is variable even among siblings.
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| 1. |
Lorenz-Depiereux B et al. (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
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| 2. |
Sholler GF et al. (1984) Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival.
|
| 3. |
Milner LS et al. (1984) Hypertension as the major problem of idiopathic arterial calcification of infancy.
|
| 4. |
Marrott PK et al. () Idiopathic infantile arterial calcification with survival to adult life.
|
| 5. |
Maayan C et al. (1984) Idiopathic infantile arterial calcification: a case report and review of the literature.
|
| 6. |
Raphael SS et al. (1970) Arterial medial calcification of infancy in brothers.
|
| 7. |
None (1974) Idiopathic arterial calcification in infancy.
|
| 8. |
None (1970) Idiopathic infantile arterial calcification--a misnomer?
|
| 9. |
Meradji M et al. (1978) Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment.
|
| 10. |
Anderson KA et al. (1985) Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations.
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| 11. |
Van Dyck M et al. (1989) Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement.
|
| 12. |
Stuart G et al. (1990) Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate.
|
| 13. |
Rutsch F et al. (2008) Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
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| 14. |
MENTON ML et al. (1948) Coronary sclerosis in infancy; report of three autopsied cases, two in siblings.
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| 15. |
Cheng KS et al. (2005) Generalized arterial calcification of infancy: different clinical courses in two affected siblings.
|
| 16. |
MORAN JJ et al. (1959) Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature.
|
| 17. |
HUNT AC et al. (1957) Generalized arterial calcification of infancy.
|
| 18. |
Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
|
| 19. |
Okawa A et al. (1998) Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine.
|
| 20. |
Dlamini N et al. (2009) Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.
|
| 21. |
Rutsch F et al. (2001) PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.
|
| 22. |
Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
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| 23. |
OMIM.ORG article Omim 208000
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