Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman‐Diamond syndrome or new condition?

This case underscores the difficulty in diagnosis of bone marrow failure disorders, as the presentation of disease can be inconsistent, complicated by complex and ever‐expanding genetic etiologies. A patient who presents with bone marrow failure and pancreatic insufficiency raises the question of Sh...

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Detalles Bibliográficos
Autores principales: Fadus, Matthew C., Rush, Eric T., Lettieri, Christina K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457995/
https://www.ncbi.nlm.nih.gov/pubmed/28588803
http://dx.doi.org/10.1002/ccr3.931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457995/
https://www.ncbi.nlm.nih.gov/pubmed/28588803
http://dx.doi.org/10.1002/ccr3.931

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