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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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Immunology
Acesso em linha: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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