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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent endogenous inhibitor of calcification. Varian...
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| Hauptverfasser: | , , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Public Library of Science (PLoS)
2022-04-01
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| Schriftenreihe: | PLoS Genetics |
| Online Zugang: | https://doi.org/10.1371/journal.pgen.1010192 |
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