Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these “mendelizing” disease traits represent phenoty...

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Bibliographische Detailangaben
Veröffentlicht in:Front Immunol
Hauptverfasser: Chinn, Ivan K., Sanders, Robert P., Stray-Pedersen, Asbjørg, Coban-Akdemir, Zeynep H., Kim, Vy Hong-Diep, Dadi, Harjit, Roifman, Chaim M., Quigg, Troy, Lupski, James R., Orange, Jordan S., Hanson, I. Celine
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2017
Schlagworte:
Immunology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5445153/
https://ncbi.nlm.nih.gov/pubmed/28603521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2017.00576
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