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

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

Homozygous missense mutations in POLE1 caused an inherited disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature.

Bibliographic Details
Main Authors: Pachlopnik Schmid, Jana, Lemoine, Roxane, Nehme, Nadine, Cormier-Daire, Valéry, Revy, Patrick, Debeurme, Franck, Debré, Marianne, Nitschke, Patrick, Bole-Feysot, Christine, Legeai-Mallet, Laurence, Lim, Annick, de Villartay, Jean-Pierre, Picard, Capucine, Durandy, Anne, Fischer, Alain, de Saint Basile, Geneviève
Format: Online
Language:English
Published: The Rockefeller University Press 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526359/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526359/

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