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Article

Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

American journal of medical genetics. Part A - 1 Mar 2009

Dlamini Nomazulu, Splitt Miranda, Durkan Anne, Siddiqui Ata, Padayachee Soundrie, Hobbins Sue, Rutsch Frank, Wraige Elizabeth

Abstract excerpt

Generalized arterial calcification of infancy (GACI) (OMIM no. 208000) is characterized by calcification of the major arteries and soft tissues and associated with mutations in the ENPP1 gene. Most affected patients die within the first 6 months of life although prolonged survival is increasingly recognized. We report on three siblings with GACI and striking phenotypic variability. Two siblings (including the...

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Source

Identifiers

PMID: 19206175
DOI: 10.1002/ajmg.a.32646

Genes

ENPP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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