Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT.
Tesi B, et al. Among authors: holmes td.
Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15.
Blood. 2017.
PMID: 28202457
Free PMC article.