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Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2020

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

Abstract excerpt

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 ENPP1 after identification through whole exome sequencing of a 54-year-old female with biallelic mutation of ENPP1,...

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Identifiers

PMID: 31826312
DOI: 10.1002/jbmr.3938
PMCID: PMC7771569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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