Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report
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DOI: 10.1097/ms9.0000000000000197
Abstract: Introduction and importance: Variants in the aristaless-related homeobox (ARX) gene cause a diverse spectrum of phenotypes of neurodevelopmental disorders (NDD) in male patients. This article describes the role of genetic testing using whole-exome sequencing (WES)… read more here.
Keywords: arx variant; whole exome; variant; arx gene ... See more keywords