Article
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Human mutation - 1 May 2018
Jordan Valerie K, Fregeau Brieana, Ge Xiaoyan, Giordano Jessica, Wapner Ronald J, Balci Tugce B, Carter Melissa T, Bernat John A, Moccia Amanda N, Srivastava Anshika, Martin Donna M, Bielas Stephanie L, Pappas John, Svoboda Melissa D, Rio Marlène, Boddaert Nathalie, Cantagrel Vincent, Lewis Andrea M, Scaglia Fernando, Kohler Jennefer N, Bernstein Jonathan A, Dries Annika M, Rosenfeld Jill A, DeFilippo Colette, Thorson Willa, Yang Yaping, Sherr Elliott H, Bi Weimin, Scott Daryl A
Abstract excerpt
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An...
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