Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

Generalized Arterial Calcification of Infancy (GACI) is a rare disease inherited in a recessive manner, with severe and diffuse early onset of calcifications along the internal elastic lamina in large and medium size arteries. The diagnosis results are from clinical manifestations, imaging, histopat...

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Detalles Bibliográficos
Autores principales: Bulfamante, Gaetano Pietro, Carpenito, Laura, Bragantini, Emma, Graziani, Silvia, Bellizzi, Maria, Bagowski, Christoph Peter, Shoukier, Moneef, Rivieri, Francesca, Soffiati, Massimo, Barbareschi, Mattia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229691/
https://www.ncbi.nlm.nih.gov/pubmed/34199854
http://dx.doi.org/10.3390/diagnostics11061034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229691/
https://www.ncbi.nlm.nih.gov/pubmed/34199854
http://dx.doi.org/10.3390/diagnostics11061034

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