A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction

BACKGROUND: Four patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of human papilloma virus (HPV), but when they are overwhelm...

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Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Sorte, Hanne S., Osnes, Liv T., Fevang, Børre, Aukrust, Pål, Erichsen, Hans C., Backe, Paul H., Abrahamsen, Tore G., Kittang, Ole B., Øverland, Torstein, Jhangiani, Shalini N., Muzny, Donna M., Vigeland, Magnus D., Samarakoon, Pubudu, Gambin, Tomasz, Akdemir, Zeynep H. C., Gibbs, Richard A., Rødningen, Olaug K., Lyle, Robert, Lupski, James R., Stray‐Pedersen, Asbjørg
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2016
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5118205/
https://ncbi.nlm.nih.gov/pubmed/27896283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.237
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