Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
ENPP1 gene
GACI
arterial calcifications
autopsy
mutations
pathogenic variant
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
04 Jun 2021
04 Jun 2021
Historique:
received:
24
02
2021
revised:
29
05
2021
accepted:
30
05
2021
entrez:
2
7
2021
pubmed:
3
7
2021
medline:
3
7
2021
Statut:
epublish
Résumé
Generalized Arterial Calcification of Infancy (GACI) is a rare disease inherited in a recessive manner, with severe and diffuse early onset of calcifications along the internal elastic lamina in large and medium size arteries. The diagnosis results are from clinical manifestations, imaging, histopathologic exams, and genetic tests. GACI is predominantly caused by biallelic pathogenic variant in the
Identifiants
pubmed: 34199854
pii: diagnostics11061034
doi: 10.3390/diagnostics11061034
pmc: PMC8229691
pii:
doi:
Types de publication
Journal Article
Langues
eng
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