Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia

Whole-exome sequencing is increasingly used for diagnosis and identification of appropriate therapies in patients. Here, we present the case of a 3-yr-old male with a lifelong and severe transfusion-dependent anemia of unclear etiology, despite an extensive clinical workup. Given the difficulty of m...

Descripción completa

Detalles Bibliográficos
Autores principales: Lacy, Jessica N., Ulirsch, Jacob C., Grace, Rachael F., Towne, Meghan C., Hale, John, Mohandas, Narla, Lux, Samuel E., Agrawal, Pankaj B., Sankaran, Vijay G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990811/
https://www.ncbi.nlm.nih.gov/pubmed/27551681
http://dx.doi.org/10.1101/mcs.a000885

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990811/
https://www.ncbi.nlm.nih.gov/pubmed/27551681
http://dx.doi.org/10.1101/mcs.a000885

Ejemplares similares