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Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation
Autor:
Gerald Webersinke, Manfred Meissl, Bernhard Csillag, Franco Laccone, Satoshi Narumi, Hans-Christoph Duba, Denisa Ilencikova, Oskar A. Haas
Publikováno v:
Pediatric Blood & Cancer. 66:e27589
MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (-7/7q-) and an increased risk to develop myelodysplastic syndrome (MDS). We report a case of MIRAGE syndrome, caused by a novel SAMD9 mutation p.Leu641Pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441a8bb9b610c59d8967584c6d97f847
https://doi.org/10.1002/pbc.27589
https://doi.org/10.1002/pbc.27589
