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

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

BMC medical genomics - 18 Dec 2024

Ren Rong, Liu Yedan, Liu Peipei, Zhao Jing, Hou Mei, Li Shuo, Chen Zongbo, Yuan Aiyun

Abstract excerpt

BACKGROUND: Kleefstra syndrome spectrum (KLEFS) is an autosomal dominant disorder that can lead to intellectual disability and autism spectrum disorders. KLEFS encompasses Kleefstra syndrome-1 (KLEFS1) and Kleefstra syndrome-2 (KLEFS2), with KLEFS1 accounting for more than 75%. However, limited information is available regarding KLEFS2. KLEFS1 is caused by a subtelomeric chromosomal abnormality resulting in...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Craniosynostoses

Share to Exome Sequencing

Share to Heart Defects, Congenital

Share to Histone-Lysine N-Methyltransferase

Share to Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 39696517
DOI: 10.1186/s12920-024-02065-5
PMCID: PMC11657243

Genes

KMT2C
EHMT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.PMID 39696517Read ↗

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.Semantic proximity Read ↗

[Genetic analysis of three patients with Kleefstra syndrome].Semantic proximity Read ↗

Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.Semantic proximity Read ↗

Ehmt2 Loss-of-function Alterations Cause a Kleefstra-like SyndromeSemantic proximity Read ↗

EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROMESemantic proximity Read ↗

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.Semantic proximity Read ↗

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewSemantic proximity Read ↗

The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.Semantic proximity Read ↗

Kleefstra Syndrome: The First Case Report From Iran.Semantic proximity Read ↗

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.Semantic proximity Read ↗

Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes.Semantic proximity Read ↗

Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.Semantic proximity Read ↗

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