Longitudinal imaging in Kleefstra syndrome—Brief report and literature review

Abstract Background Kleefstra syndrome (KS) is a rare genetic condition affecting the euchromatic histone methyltransferase 1 (EHMT1) gene, typically presenting with developmental delay, generalized hypotonia, distinctive facial dysmorphisms, and neuropsychiatric anomalies. Methods We collected long...

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Bibliographic Details
Main Authors: Giovanni Castellucci, Csaba Juhasz, Aimee F. Luat
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:Annals of the Child Neurology Society
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Online Access:https://doi.org/10.1002/cns3.20032
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