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

Key Clinical Message 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. T...

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Bibliographic Details

Main Authors:	Yuko Shimosato, Reo Tanoshima, Shin‐ichi Tsujimoto, Masanobu Takeuchi, Koji Sasaki, Ryosuke Kajiwara, Hiroaki Goto, Junichi Nagai, Masakatsu D. Yanagimachi, Shuichi Ito, Shumpei Yokota
Format:	Artigo
Language:	Inglês
Published:	Wiley 2018-01-01
Series:	Clinical Case Reports
Subjects:	cytopenia i(7q) Shwachman–Diamond syndrome
Online Access:	https://doi.org/10.1002/ccr3.1249
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