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

Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, Valéry Cormier-Daire, Patrick Revy, Franck Debeurme, Marianne Debré, Patrick Nitschke, Christine Bole-Feysot, Laurence Legeai-Mallet, Annick Lim, Jean-Pierre de Villartay, Capucine Picard, Anne Durandy, Alain Fischer, Geneviève de Saint Basile

J Exp Med (2012) 209 (13): 2323–2330.

https://doi.org/10.1084/jem.20121303

Published: 10 December 2012

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

Includes: Supplementary data