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

Topics Community

Article

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Journal of human genetics - 1 Jun 2014

Cheon Chong Kun, Sohn Young Bae, Ko Jung Min, Lee Yeoun Joo, Song Ji Sun, Moon Jea Woo, Yang Bo Kyoung, Ha Il Soo, Bae Eun Jung, Jin Hyun-Seok, Jeong Seon-Yong

Abstract excerpt

Kabuki syndrome (KS) (OMIM#147920) is a multiple congenital anomaly/mental retardation syndrome. Recently, pathogenic variants in KMT2D and KDM6A were identified as the causes of KS in 55.8-80.0% of patients. To elucidate further the molecular characteristics of Korean patients with KS, we screened a cohort of patients with clinically defined KS for mutations in KMT2D and KDM6A. Whole-exome sequencing and direct...

Topics

Abnormalities, Multiple
Child
Child, Preschool
DNA Mutational Analysis
DNA-Binding Proteins
Exome
Face
Female
Hematologic Diseases
Histone Demethylases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Male

Mutation

Neoplasm Proteins

Nuclear Proteins

Republic of Korea

Vestibular Diseases

Source

Identifiers

PMID: 24739679
DOI: 10.1038/jhg.2014.25

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.PMID 24739679Read ↗

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 ↗

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 ↗

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

Neonatal Kabuki syndrome caused by KMT2D mutation: A case report.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 ↗

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

KDM6A point mutations cause Kabuki syndrome.Semantic proximity Read ↗

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

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

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