ENPP1 deletion and infantile arterial calcification

ABSTRACT: The goal of this study was to identify new mutations in the ENPP1 gene that produce infantile arterial calcification and fetal demise. A stillborn (proband) was diagnosed with infantile arterial calcification. Mutations in the ENPP1 gene account for ~80% of the cases of infantile arterial calcification through loss of function in both alleles (recessive inheritance).

ORGANISM(S): Homo sapiens

PROVIDER: GSE26860 | GEO | 2011/01/26

SECONDARY ACCESSION(S): PRJNA135987

REPOSITORIES: GEO