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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Clin Case Rep
Κύριοι συγγραφείς: Shimosato, Yuko, Tanoshima, Reo, Tsujimoto, Shin‐ichi, Takeuchi, Masanobu, Sasaki, Koji, Kajiwara, Ryosuke, Goto, Hiroaki, Nagai, Junichi, Yanagimachi, Masakatsu D., Ito, Shuichi, Yokota, Shumpei
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: John Wiley and Sons Inc. 2017
Θέματα:
Case Reports
Διαθέσιμο Online: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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