Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency
Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face...
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Main Authors: | Funda Erol Çipe, Cigdem Aydogmus, Arzu Babayigit Hocaoglu, Merve Kilic, Gul Demet Kaya, Elif Yilmaz Gulec |
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Format: | Article |
Language: | English |
Published: |
Wiley
2014-01-01
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Series: | Case Reports in Pediatrics |
Online Access: | http://dx.doi.org/10.1155/2014/614238 |
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