Article
New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2026
Curtis David, Zhao Xiaonan, Owen Nichole M, Azamian Mahshid S, Lalani Seema R, Keller Kierstin, Strong Alanna, Shen Joseph, DeFilippo Colette, Goel Himanshu, Schmalz Betsy, Chaudhari Bimal P, Joss Shelagh, Gucsavas-Calikoglu Muge, Shiloh-Malawsky Yael, Perilla-Young Yezmin, Thompson Olivia, Champaigne Neena, Chiriatti Luigi, Ferilli Marco, Tartaglia Marco, Priolo Manuela, Radio Francesca Clementina, El Achkar Christelle Moufawad, Valentine Rozalia, van Gassen Koen L I, Van den Boogaard Marie-José H, Roscioli Tony, Syryn Hannes, Cools Martine, De Baere Elfride, Repetto Gabriela M, Massey Hannah, Alanay Yasemin, Akgun-Dogan Ozlem, Josephi-Taylor Sarah, Bournazos Adam M, Cooper Sandra T, Faundes Victor, Scott Daryl A
Abstract excerpt
PURPOSE: To define the phenotypic spectrum and genotype-phenotype correlations associated with pathogenic RERE variants and inform clinical management and genetic counseling for neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). METHODS: We assembled a cohort of 54 individuals with heterozygous pathogenic, likely pathogenic, and variants of uncertain significance in RERE,...
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