Further Evidence for LRRC7 Gene Involvement in Neurodevelopmental Disorder: A Novel Variant.

Abstract excerpt

BACKGROUND: Neurodevelopmental disorders (NDDs) are clinically heterogeneous conditions with complex etiologies and limited therapeutic options. Here, we investigated a proband presenting global developmental delay (GDD), tonic seizures, failure to thrive, mild microcephaly, intellectual disability (ID), and hypotonia. METHODS: Exome sequencing (ES), followed by Sanger sequencing, was performed for molecular...

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