From Genotype to Phenotype—A Review of Kabuki Syndrome †

Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. This review assesses our current understanding of KS, which was originally named Niikawa–Kuroki syndrome, and aims to guide surveillance and medical care of aff...

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Detalles Bibliográficos
Autores principales: Barry, Kelly K., Tsaparlis, Michaelangelo, Hoffman, Deborah, Hartman, Deborah, Adam, Margaret P., Hung, Christina, Bodamer, Olaf A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601850/
https://www.ncbi.nlm.nih.gov/pubmed/36292647
http://dx.doi.org/10.3390/genes13101761

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601850/
https://www.ncbi.nlm.nih.gov/pubmed/36292647
http://dx.doi.org/10.3390/genes13101761

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