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,...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Hindawi Publishing Corporation
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910469/ |