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Article

The impact of monoallelic inactivation mutations in the ENPP1 gene on pediatric skeletal development: a case report and literature review.

Frontiers in endocrinology - 1 Jan 2025

Lu Siyi, Sun Ning, Li Yuan, Wu Zongyi, Zhang Jingdong

Abstract excerpt

Background: Recently, in our clinical work, we discovered a case of abnormal bone metabolism in children resulting from an inactivated mutation of the ENPP1 gene. Through this discovery, we highlighted the impact of the ENPP1 gene on the skeletal growth and development of children, and provided new ideas for the clinical diagnosis of bone diseases in children. Case summary: A 17-year-old boy presented with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40270714
DOI: 10.3389/fendo.2025.1430681
PMCID: PMC12015756

Genes

ENPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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