Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been identified. We studied 2 families with cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction. Genetic studies uncovered heterozygous missense muta...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C. C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan T.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2017
Assuntos:
Myeloid Neoplasia
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5399482/
https://ncbi.nlm.nih.gov/pubmed/28202457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-10-743302
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