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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830370/
https://www.ncbi.nlm.nih.gov/pubmed/29217778
http://dx.doi.org/10.3324/haematol.2017.180778

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830370/
https://www.ncbi.nlm.nih.gov/pubmed/29217778
http://dx.doi.org/10.3324/haematol.2017.180778

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