Article

Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene

2023-05-22

Abstract excerpt

<h4>Background: </h4> Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and characterized by intellectual disability (ID), childhood hypotonia, and distinctive facial features. Tourette-like syndrome in KS1 has rarely been reported. Case presen...

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Literature Corpus work: dc032408-12ca-55c1-a955-f1345d160c52
DOI: 10.21203/rs.3.rs-2933476/v1

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