Renal involvement and Strømme syndrome

Strømme syndrome is a rare autosomal recessive congenital disorder involving multiple systems. Centromeric protein F (CENPF) is the causative gene of the disease, and variants are usually linked to lethal outcomes either during the foetal stage or in early life. We present a young adult with a genet...

Descripción completa

Detalles Bibliográficos
Autores principales: Caridi, Gianluca, Lugani, Francesca, Lerone, Margherita, Divizia, Maria Teresa, Ghiggeri, Gian Marco, Verrina, Enrico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Exceptional Cases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7857842/
https://www.ncbi.nlm.nih.gov/pubmed/33564452
http://dx.doi.org/10.1093/ckj/sfz189

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7857842/
https://www.ncbi.nlm.nih.gov/pubmed/33564452
http://dx.doi.org/10.1093/ckj/sfz189

Ejemplares similares