Article
Phenotypic expansion illuminates multilocus pathogenic variation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018
Karaca Ender, Posey Jennifer E, Coban Akdemir Zeynep, 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
Abstract excerpt
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: Analyses focused on 106 patients, 19 for whom apparent phenotypic expansion was previously attributed to variation at...
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