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

Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.

BMC pediatrics - 28 Aug 2023

Deng Xiao-Xian, Jin Bo-Wen, Li Shan-Shan, Zhou Hong-Mei, Shen Qun-Shan, Li Yun-Yan

Abstract excerpt

BACKGROUND: Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation of lysine methyltransferase 2D(KMT2D). Recent evidence has shown that KMT2D mutations are associated with pediatric pulmonary disorders. However, the relationship between the clinical courses 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 Face
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematologic Diseases

Share to Hypertension, Pulmonary

Share to Phenotype

Share to Vestibular Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 37641008
DOI: 10.1186/s12887-023-04273-x
PMCID: PMC10463411

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.PMID 37641008Read ↗

Recent Advances in Pediatric Pulmonary Hypertension: Implications for Diagnosis and Treatment.Semantic proximity Read ↗

Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.Semantic proximity Read ↗

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

Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.Semantic proximity Read ↗

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

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.Semantic proximity Read ↗

Sex-specific Difference in Phenotype of Kabuki Syndrome Type 2 Patients: A Matched Case-Control StudySemantic proximity Read ↗

Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case reportSemantic proximity Read ↗

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

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.Semantic proximity Read ↗

From Genotype to Phenotype-A Review of Kabuki Syndrome.Semantic proximity Read ↗

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.Semantic proximity Read ↗

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