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

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

BackgroundRecently, 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 id...

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Bibliographic Details
Main Authors: Siyi Lu, Ning Sun, Yuan Li, Zongyi Wu, Jingdong Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Endocrinology
Subjects:
ARHR2
ENPP1 gene
femoral head epiphysis slippage
osteoporosis
pediatric skeletal growth
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1430681/full
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https://www.frontiersin.org/articles/10.3389/fendo.2025.1430681/full

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