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

BACKGROUND: 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 is characterized by intellectual disability (ID), childhood h...

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Detalles Bibliográficos
Autores principales: Niu, Mengyue, Li, Yanjing, Zhan, Shikun, Sun, Bomin, Liu, Jun, Wu, Yiwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10563308/
https://www.ncbi.nlm.nih.gov/pubmed/37817104
http://dx.doi.org/10.1186/s12883-023-03417-x