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

[Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology - 9 Aug 2023

Wu Z Y, Yue H T, Li J, Yang J G, Bian Z, He M

Abstract excerpt

Objective: To screen the candidate genes in a patient with Kabuki syndrome (KS), providing basis for genetic counseling, prenatal screening, prenatal diagnosis and facilitating early treatment. Methods: This study included a 16-year-old female KS patient born of non-consanguineous Chinese parents who presented to Department of Orthognathic & Cleft Lip and Palate Plastic Surgery, School and Hospital of...

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 Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Alleles

Share to Cleft Lip

Share to Cleft Palate

Share to Hematologic Diseases

Share to Vestibular Diseases

Source

Identifiers

PMID: 37550041
DOI: 10.3760/cma.j.cn112144-20230324-00112

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].PMID 37550041Read ↗

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.Semantic proximity Read ↗

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.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 ↗

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

[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].Semantic proximity Read ↗

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

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.Semantic proximity Read ↗

[Analysis of genetic variants and clinical manifestations of two children with Kabuki syndrome].Semantic proximity Read ↗

Unmasking Kabuki syndrome.Semantic proximity Read ↗

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.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 ↗

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

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