Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency

Rapid whole-genome sequencing (rWGS) has shown that genetic diseases are a common cause of infant mortality in neonatal intensive care units. Dried blood spots collected for newborn screening allow investigation of causes of infant mortality that were not diagnosed during life. Here, we present a ne...

Descripción completa

Detalles Bibliográficos
Autores principales: Owen, Mallory J., Lenberg, Jerica, Feigenbaum, Annette, Gold, Jeffrey, Chau, Kevin, Bezares-Orin, Zaira, Ding, Yan, Chowdhury, Shimul, Kingsmore, Stephen F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208044/
https://www.ncbi.nlm.nih.gov/pubmed/34117075
http://dx.doi.org/10.1101/mcs.a006091

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208044/
https://www.ncbi.nlm.nih.gov/pubmed/34117075
http://dx.doi.org/10.1101/mcs.a006091

Ejemplares similares