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...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4990811/
https://ncbi.nlm.nih.gov/pubmed/27551681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000885
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