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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Clin Case Rep
मुख्य लेखकों: Shimosato, Yuko, Tanoshima, Reo, Tsujimoto, Shin‐ichi, Takeuchi, Masanobu, Sasaki, Koji, Kajiwara, Ryosuke, Goto, Hiroaki, Nagai, Junichi, Yanagimachi, Masakatsu D., Ito, Shuichi, Yokota, Shumpei
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley and Sons Inc. 2017
विषय:
Case Reports
ऑनलाइन पहुंच: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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