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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Detalles Bibliográficos
Autores principales: Ralph, Douglas, Nitschke, Yvonne, Levine, Michael A., Caffet, Matthew, Wurst, Tamara, Saeidian, Amir Hossein, Youssefian, Leila, Vahidnezhad, Hassan, Terry, Sharon F., Rutsch, Frank, Uitto, Jouni, Li, Qiaoli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9089899/
https://www.ncbi.nlm.nih.gov/pubmed/35482848
http://dx.doi.org/10.1371/journal.pgen.1010192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9089899/
https://www.ncbi.nlm.nih.gov/pubmed/35482848
http://dx.doi.org/10.1371/journal.pgen.1010192

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