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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Veröffentlicht in:Clin Case Rep
Hauptverfasser: Shimosato, Yuko, Tanoshima, Reo, Tsujimoto, Shin‐ichi, Takeuchi, Masanobu, Sasaki, Koji, Kajiwara, Ryosuke, Goto, Hiroaki, Nagai, Junichi, Yanagimachi, Masakatsu D., Ito, Shuichi, Yokota, Shumpei
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
Schlagworte:
Case Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771925/
https://ncbi.nlm.nih.gov/pubmed/29375851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1249
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