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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Mol Genet Genomic Med
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley and Sons Inc. 2016
विषय:
ऑनलाइन पहुंच: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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