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

Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.

Fetal diagnosis and therapy - 1 Jan 2022

Zhang Lu, Li Yan-Lin, Zhen Li, Li Ru, Li Dong-Zhi

Abstract excerpt

INTRODUCTION: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome with characterized facial features. The aim of study was to report on prenatal sonographic findings associated with KS in 7 Chinese families. CASE PRESENTATION: During the study period, 7 families of KS were diagnosed. Variants of KMT2D were detected in 4 cases, and variants of KDM6A in 3 cases. For cases with KMT2D variants, cleft...

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 Hematologic Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Histone Demethylases

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Vestibular Diseases

Source

Identifiers

PMID: 36436503
DOI: 10.1159/000527551

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

Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.PMID 36436503Read ↗

Prenatal phenotype of Kabuki syndrome: A case series and literature review.Semantic proximity Read ↗

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

Prenatal and perinatal history in Kabuki Syndrome.Semantic proximity Read ↗

Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutationSemantic proximity Read ↗

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

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.Semantic proximity Read ↗

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

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

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.Semantic proximity Read ↗

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

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

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

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