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Article

Phenotypic variability in RERE-related disorders and the first report of an inherited variant.

American journal of medical genetics. Part A - 1 Nov 2022

Niehaus Annie D, Kim Jenny, Manning Melanie A

Abstract excerpt

RERE-related disorders, also known as Neurodevelopmental Disorders with or without Anomalies of the Brain, Eye, or Heart (NEDBEH), are caused by heterozygous pathogenic variants in the arginine-glutamic acid dipeptide repeats gene (RERE). Up-to-date, 20 cases have been reported with the core characteristics of developmental delay, intellectual disability, and/or autism spectrum disorder. Here, we describe three...

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PMID: 36053530
DOI: 10.1002/ajmg.a.62952

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