Case report: A rare homozygous variation in the ENPP1 gene, presenting with generalized arterial calcification of infancy in a Chinese infant
Generalized arterial calcification of infancy (GACI) is a rare genetic disease characterized by arterial calcifications or stenoses and hypertension. GACI is caused by mutations in the ENPP1 or ABCC6 genes, and it often causes intrauterine or early infancy death. Here, we report a case of rare GACI...
Main Authors: | Pengtao Lu, Jinglong Chen, Mei Chen, Ling Wang, Dandan Xiang, Jie Yin, Shiwei Yang |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-03-01
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Series: | Frontiers in Cardiovascular Medicine |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2023.1105381/full |
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