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...

Descripción completa

Detalles Bibliográficos
Autores principales: Lu, Pengtao, Chen, Jinglong, Chen, Mei, Wang, Ling, Xiang, Dandan, Yin, Jie, Yang, Shiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020691/
https://www.ncbi.nlm.nih.gov/pubmed/36937905
http://dx.doi.org/10.3389/fcvm.2023.1105381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020691/
https://www.ncbi.nlm.nih.gov/pubmed/36937905
http://dx.doi.org/10.3389/fcvm.2023.1105381

Ejemplares similares