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Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings
Germline mutations in the RING finger protein gene RNF168 have been identified in a combined immunodeficiency disorder called RIDDLE syndrome. Since only two patients have been described with somewhat different phenotypes, there is need to identify further patients. Here, we report on two Polish sib...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722808/ https://www.ncbi.nlm.nih.gov/pubmed/29255463 http://dx.doi.org/10.3389/fimmu.2017.01683 |