The American Journal of Human Genetics
Volume 103, Issue 6, 6 December 2018, Pages 1038-1044
ReportDNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
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Key words
DNA replication
growth
adrenal failure
immunodeficiency
cell cycle
polymerase epsilon
IMAGe syndrome
microcephaly
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