Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia

We report two male siblings with SDS. They have the same compound heterozygous mutations. Only one of the siblings acquired cytogenetic abnormality of i(7q) 2 years after diagnosis, became transfusion‐dependent, and underwent allogeneic hematopoietic stem cell transplantation. These cases indicate t...

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Detalles Bibliográficos
Autores principales: Shimosato, Yuko, Tanoshima, Reo, Tsujimoto, Shin‐ichi, Takeuchi, Masanobu, Sasaki, Koji, Kajiwara, Ryosuke, Goto, Hiroaki, Nagai, Junichi, Yanagimachi, Masakatsu D., Ito, Shuichi, Yokota, Shumpei
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/PMC5771925/
https://www.ncbi.nlm.nih.gov/pubmed/29375851
http://dx.doi.org/10.1002/ccr3.1249

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771925/
https://www.ncbi.nlm.nih.gov/pubmed/29375851
http://dx.doi.org/10.1002/ccr3.1249

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