Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature

Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation, KMT2D (34–76%) or KDM6A (9–13%). Previously, representative neurobehavioral deficits of KS were recapitulated...

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Detalles Bibliográficos
Autores principales: Kalinousky, Allison J., Rapp, Tyler, Hijazi, Hadia, Johnson, Jennifer, Bjornsson, Hans Tomas, Harris, Jacqueline R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582441/
https://www.ncbi.nlm.nih.gov/pubmed/36276984
http://dx.doi.org/10.3389/fgene.2022.1007046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582441/
https://www.ncbi.nlm.nih.gov/pubmed/36276984
http://dx.doi.org/10.3389/fgene.2022.1007046

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