Dataset Information
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Ontology highlight
ABSTRACT:
SUBMITTER: Bertamino M
PROVIDER: S-EPMC12628958 | biostudies-literature | 2025 Nov
REPOSITORIES: biostudies-literature
Publications
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Orphanet journal of rare diseases 20251119 1
BACKGROUND: ABCC6 deficiency is caused by variants in the ABCC6 gene, leading to dysfunction of the ABCC6 protein. This can result in the development of the infantile phenotype, generalized arterial calcification of infancy type 2 (GACI2), or the adolescent-adult phenotype, pseudoxanthoma elasticum (PXE). To date, the impact of ABCC6 deficiency in a pediatric population has not been comprehensively studied. This analysis aimed to collectively characterize the genotypic and phenotypic presentatio ...[more]
