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Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report
BACKGROUND: Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene. Here we present a case report of GACI in a male infant with a new familial mutat...
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| Vydáno v: | BMC Pediatr |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6034340/ https://ncbi.nlm.nih.gov/pubmed/29976176 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1198-4 |
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