Bate palmas mutant mice as a model of Kabuki syndrome: Higher susceptibility to infections and vocalization impairments?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuroscience research"
DOI: 10.1002/jnr.25050
Abstract: The recessive mutant mouse bate palmas (bapa) arose from N-ethyl-N-nitrosourea mutagenesis. Previous studies of our group revealed some behavioral impairments and a mutation in the lysine (K)-specific methyltransferase 2D (Kmt2d) gene. Because mutations in the… read more here.
Keywords: bapa mice; kabuki syndrome; model kabuki; mice ... See more keywords
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
Sign Up to like & getrecommendations! Published in 2024 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-023-06345-1
Abstract: Kabuki Syndrome is a rare and genetically heterogenous condition with both ophthalmic and systemic complications and typical facial features. We detail the macular phenotype in two unrelated patients with Kabuki syndrome due to de novo… read more here.
Keywords: multimodal imaging; kabuki syndrome; syndrome due; due novo ... See more keywords
Behavioural impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations
Sign Up to like & getrecommendations! Published in 2025 at "Acta Neuropsychiatrica"
DOI: 10.1017/neu.2025.17
Abstract: Abstract Objective: Kabuki syndrome is a rare multisystem congenital disorder characterised by specific facial malformations and several other symptoms, including motor impairments, increased susceptibility to infections, immune mediators’ deficits, anxiety, and stereotyped behaviours. Considering the… read more here.
Keywords: kabuki syndrome; stereotyped behaviour; model kabuki;
Kabuki patients with CHDs: outcomes after cardiac surgery.
Sign Up to like & getrecommendations! Published in 2025 at "Cardiology in the young"
DOI: 10.1017/s1047951125000435
Abstract: OBJECTIVE This study aims to examine the surgical outcome of Kabuki syndrome patients after neonatal congenital heart surgery. METHODS This was a single-centre retrospective study of Kabuki syndrome patients undergoing neonatal congenital heart surgery from… read more here.
Keywords: surgery; heart; kabuki syndrome; non kabuki ... See more keywords
A rare case of parachute mitral valve and dual drainage of the left upper pulmonary vein in a patient with Kabuki syndrome
Sign Up to like & getrecommendations! Published in 2025 at "Cardiology in the Young"
DOI: 10.1017/s1047951125109281
Abstract: Abstract A patient with Kabuki syndrome and a parachute mitral valve was referred for mitral stenosis. Echocardiography indicated right ventricular dilatation and a suspected vertical ascending vein. Cardiac CT confirmed dual drainage of the left… read more here.
Keywords: patient kabuki; mitral valve; kabuki syndrome; drainage left ... See more keywords
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0623-x
Abstract: Purpose Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency… read more here.
Keywords: registry study; 177 individuals; kabuki syndrome; manifestations kabuki ... See more keywords
When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0707-7
Abstract: To the Editor: In 2006, Watson et al. recommended, during their participation in an American College of Medical Genetics (ACMG) Newborn Screening Expert Group, a uniform panel of conditions for inclusion in state newborn screening… read more here.
Keywords: medicine; immunodeficiency; kabuki syndrome; disease ... See more keywords
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1701645
Abstract: Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnormalities, and postnatal growth deficiencies. Cardiac… read more here.
Keywords: kabuki syndrome; corpus callosum; focal epilepsy; form ... See more keywords
Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity
Sign Up to like & getrecommendations! Published in 2025 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2025.2505913
Abstract: ABSTRACT Background Kabuki Syndrome (KS) is a rare multiple congenital anomaly syndrome originally described in 1981 by Japanese clinicians. KS belongs to the family of chromatinopathies, a group of disorders characterized by abnormalities in chromatin… read more here.
Keywords: kabuki syndrome; pathogenic variant; macular abnormalities; retinopathy prematurity ... See more keywords
Animal models of Kabuki syndrome and their applicability to novel drug discovery
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DOI: 10.1080/17460441.2025.2457624
Abstract: ABSTRACT Introduction Kabuki Syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple congenital anomalies. It is caused by pathogenic variants in the KMT2D and KDM6A genes. Despite its… read more here.
Keywords: animal models; kabuki syndrome; discovery animal; drug discovery ... See more keywords
Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome
Sign Up to like & getrecommendations! Published in 2024 at "Briefings in Bioinformatics"
DOI: 10.1093/bib/bbae667
Abstract: Abstract Complex direct and indirect relationships between multiple variables, termed higher order interactions (HOIs), are characteristics of all natural systems. Traditional differential and network analyses fail to account for the omic datasets richness and miss… read more here.
Keywords: order interaction; higher order; kabuki syndrome; interaction analysis ... See more keywords