Filling in the gaps on FILS syndrome: A case report and literature review

Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis

(2018) Roberto Bellelli et al.   MOLECULAR CELL

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

(2018) Clare V. Logan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

(2015) Isabelle Thiffault et al.   BMC Medical Genetics

DNA polymerase ε and its roles in genome stability

(2014) Erin E. Henninger et al.   IUBMB LIFE

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

(2012) Jana Pachlopnik Schmid et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DNA polymerases and human disease

(2008) Lawrence A. Loeb et al.   NATURE REVIEWS GENETICS