Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis

Biallelic variants in inorganic pyrophosphatase 2 (PPA2) are known to cause infantile sudden cardiac failure (OMIM #617222), but relatively little is known about phenotypic variability of these patients prior to their death. We report a 5-wk-old male with bilateral vocal cord paralysis and hypertens...

Descripción completa

Detalles Bibliográficos
Autores principales: Sanford, Erica, Jones, Marilyn C., Brigger, Matthew, Hammer, Monia, Giudugli, Lucia, Kingsmore, Stephen F., Dimmock, David, Bainbridge, Matthew N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552926/
https://www.ncbi.nlm.nih.gov/pubmed/33028643
http://dx.doi.org/10.1101/mcs.a005611

Ejemplares similares

Ejemplares similares