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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450542/
https://www.ncbi.nlm.nih.gov/pubmed/29790871
http://dx.doi.org/10.1038/gim.2018.33

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450542/
https://www.ncbi.nlm.nih.gov/pubmed/29790871
http://dx.doi.org/10.1038/gim.2018.33

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