Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromos...

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Vydáno v:Haematologica
Hlavní autoři: Pastor, Victor B., Sahoo, Sushree S., Boklan, Jessica, Schwabe, Georg C., Saribeyoglu, Ebru, Strahm, Brigitte, Lebrecht, Dirk, Voss, Matthias, Bryceson, Yenan T., Erlacher, Miriam, Ehninger, Gerhard, Niewisch, Marena, Schlegelberger, Brigitte, Baumann, Irith, Achermann, John C., Shimamura, Akiko, Hochrein, Jochen, Tedgård, Ulf, Nilsson, Lars, Hasle, Henrik, Boerries, Melanie, Busch, Hauke, Niemeyer, Charlotte M., Wlodarski, Marcin W.
Médium: Artigo
Jazyk:Inglês
Vydáno: Ferrata Storti Foundation 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5830370/
https://ncbi.nlm.nih.gov/pubmed/29217778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.180778
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