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Article

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.

Orphanet journal of rare diseases - 19 Nov 2025

Bertamino Marta, Goldberg David J, Mughal M Zulf, Pabst Lisa, Liao Yaping Joyce, Sun Lisa R, Beckwell Jane, Kozaric Amina, du Moulin Ruth, Swanner Katie, Ferreira Carlos R, Ziegler Shira G

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41257790
DOI: 10.1186/s13023-025-04102-7
PMCID: PMC12628958

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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