Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

PURPOSE: Multilocus variation, pathogenic variants in two or more disease genes, can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a “known” disease gene. METHODS:...

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Bibliografiset tiedot
Julkaisussa:Genet Med
Päätekijät: Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6450542/
https://ncbi.nlm.nih.gov/pubmed/29790871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2018.33
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