Article
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
American journal of medical genetics. Part A - 1 May 2022
Taylor James, Spiller Michael, Ranguin Kara, Vitobello Antonio, Philippe Christophe, Bruel Ange-Line, Cappuccio Gerarda, Brunetti-Pierri Nicola, Willems Marjolaine, Isidor Bertrand, Park Kristen, Balasubramanian Meena
Abstract excerpt
Pathogenic variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants. All patients were found to harbor de novo loss-of-function variants except for one individual where the inheritance could not be determined, as a parent was unavailable for testing....
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