DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan, Clare V; Murray, Jennie E; Parry, David A; Robertson, Andrea; Bellelli, Roberto; Tarnauskaitė, Žygimantė; Challis, Rachel; Cleal, Louise; Borel, Valerie; Fluteau, Adeline; Santoyo-Lopez, Javier; SGP Consortium,; Aitman, Tim; Barroso, Ines; Basel, Donald; Bicknell, Louise S; Goel, Himanshu; Hu, Hao; Huff, Chad; Hutchison, Michele; Joyce, Caroline; Knox, Rachel; Lacroix, Amy E; Langlois, Sylvie; McCandless, Shawn; McCarrier, Julie; Metcalfe, Kay A; Morrissey, Rose; Murphy, Nuala; Netchine, Irène; O'Connell, Susan M; Olney, Ann Haskins; Paria, Nandina; Rosenfeld, Jill A; Sherlock, Mark; Syverson, Erin; White, Perrin C; Wise, Carol; Yu, Yao; Zacharin, Margaret; Banerjee, Indraneel; Reijns, Martin; Bober, Michael B; Semple, Robert K; Boulton, Simon J; Rios, Jonathan J; Jackson, Andrew P

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Authors

Logan, Clare V

Murray, Jennie E

Parry, David A

Robertson, Andrea

Bellelli, Roberto

Tarnauskaitė, Žygimantė

Challis, Rachel

Publication Date

2018-12

Journal Title

American journal of human genetics

ISSN

0002-9297

Volume

103

Issue

Pages

1038-1044

Language

eng

Type

Article

This Version

VoR

Physical Medium

Print-Electronic

Metadata

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Citation

Logan, C. V., Murray, J. E., Parry, D. A., Robertson, A., Bellelli, R., Tarnauskaitė, Ž., Challis, R., et al. (2018). DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.. American journal of human genetics, 103 (6), 1038-1044. https://doi.org/10.1016/j.ajhg.2018.10.024

Keywords

SGP Consortium, Humans, Osteochondrodysplasias, Urogenital Abnormalities, Fetal Growth Retardation, Adrenal Insufficiency, DNA Polymerase II, DNA Replication, Phenotype, Mutation, Alleles, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Cyclin-Dependent Kinase Inhibitor p57, Young Adult, Poly-ADP-Ribose Binding Proteins

Identifiers

External DOI: https://doi.org/10.1016/j.ajhg.2018.10.024

This record's URL: https://www.repository.cam.ac.uk/handle/1810/294780

Rights

Attribution-NonCommercial-NoDerivatives 4.0 International

Licence URL: https://creativecommons.org/licenses/by-nc-nd/4.0/

Except where otherwise noted, this item's licence is described as Attribution-NonCommercial-NoDerivatives 4.0 International