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

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

American journal of medical genetics. Part A - 1 Feb 2024

Nishi Eriko, Miyake Noriko, Kawamura Rie, Hosoki Kana, Hasegawa Yuiko, Matsumoto Naomichi, Okamoto Nobuhiko

Abstract excerpt

Kabuki syndrome (KS) is characterized by growth impairment, psychomotor delay, congenital heart disease, and distinctive facial features. KMT2D and KDM6A have been identified as the causative genes of KS. Craniosynostosis (CS) has been reported in individuals with KS; however, its prevalence and clinical implications remain unclear. In this retrospective study, we investigated the occurrence of CS in individuals...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Craniosynostoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematologic Diseases

Share to Histone Demethylases

Share to Mutation

Share to Prevalence

Share to Vestibular Diseases

Source

Identifiers

PMID: 37815018
DOI: 10.1002/ajmg.a.63424

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.PMID 37815018Read ↗

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

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

A Case of Kabuki Syndrome Caused by a Novel Mutation in KMT2D and a Literature Review of Ocular AbnormalitiesSemantic proximity Read ↗

Kabuki syndrome: clinical and molecular diagnosis in the first year of life.Semantic proximity Read ↗

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

Unmasking Kabuki syndrome.Semantic proximity Read ↗

On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.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 ↗

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Semantic proximity Read ↗

Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.Semantic proximity Read ↗

Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.Semantic proximity Read ↗

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