Cargando…
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...
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: | |
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 |
Ejemplares similares
-
A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada
por: Theodore-Oklota, Christina, et al.
Publicado: (2021) -
Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome
por: Theodore‐Oklota, Christina, et al.
Publicado: (2020) -
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
por: Luperchio, Teresa Romeo, et al.
Publicado: (2019) -
Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome
por: van Dongen, L. C. M., et al.
Publicado: (2019) -
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
por: Shangguan, Huakun, et al.
Publicado: (2019)