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Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations

Inactivating mutations of the ENPP1 gene are associated with generalized arterial calcification of infancy (GACI) and less often autosomal-recessive hypophosphatemic rickets type 2 (ARHR2). We aimed to investigate the spectrum of phenotypes in a family with monoallelic and biallelic mutations of ENP...

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Bibliografski detalji
Izdano u:J Bone Miner Res
Glavni autori: Kotwal, Anupam, Ferrer, Alejandro, Kumar, Rajiv, Singh, Ravinder J, Murthy, Vishakantha, Schultz-Rogers, Laura, Zimmermann, Michael, Lanpher, Brendan, Zimmerman, Kristin, Stabach, Paul R, Klee, Eric, Braddock, Demetrios T, Wermers, Robert A
Format: Artigo
Jezik:Inglês
Izdano: 2020
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Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7771569/
https://ncbi.nlm.nih.gov/pubmed/31826312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3938
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