Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

From Genotype to Phenotype-A Review of Kabuki Syndrome.

Genes - 29 Sept 2022

Barry Kelly K, Tsaparlis Michaelangelo, Hoffman Deborah, Hartman Deborah, Adam Margaret P, Hung Christina, Bodamer Olaf A

Abstract excerpt

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 affected individuals as well as identify gaps in knowledge and unmet patient needs. Ovid MEDLINE and EMBASE databases...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genotype
Share to Histone Demethylases
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Quality of Life

Source

Open in PubMed Open full text

Identifiers

PMID: 36292647
DOI: 10.3390/genes13101761
PMCID: PMC9601850

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

From Genotype to Phenotype-A Review of Kabuki Syndrome.PMID 36292647Read ↗

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.Semantic proximity Read ↗

Unmasking the challenges of Kabuki syndrome in adulthood: A case series.Semantic proximity Read ↗

[Kabuki syndrome: Update and review].Semantic proximity Read ↗

Kabuki Syndrome-Clinical Review with Molecular Aspects.Semantic proximity Read ↗

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.Semantic proximity Read ↗

Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Semantic proximity Read ↗

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.Semantic proximity Read ↗

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.Semantic proximity Read ↗

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.Semantic proximity Read ↗

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.Semantic proximity Read ↗

Kabuki syndrome: international consensus diagnostic criteria.Semantic proximity Read ↗

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.