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
Publicado en:Clin Case Rep
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: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea: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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