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J.EJMG.2017.02.002
J.EJMG.2017.02.002
http://dx.doi.org/10.1016/J.EJMG.2017.02.002
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
P356
Q53488618-988DDCA6-09F4-4EBB-A9D8-3E6FA58A7FB2
P356
J.EJMG.2017.02.002
http://dx.doi.org/10.1016/J.EJMG.2017.02.002