Autosomal recessive hypophosphatemic rickets type 2 is a hyperphosphaturia syndrome with skeletal malformations caused by mutations of the ENPP1 gene.
1. |
Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. |
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Levy-Litan V et al. (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. |
3. |
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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OMIM.ORG article Omim 613312 |