Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

doi:10.1038/s10038-024-01258-1

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Article

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Journal of human genetics - 1 Sept 2024

Yoon Ji-Hee, Hwang Soojin, Bae Hyunwoo, Kim Dohyung, Seo Go Hun, Koh June-Young, Ju Young Seok, Do Hyo-Sang, Kim Soyoung, Kim Gu-Hwan, Kim Ja Hye, Choi Jin-Ho, Lee Beom Hee

Abstract excerpt

INTRODUCTION: Kabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad persistence, postnatal growth retardation, and intellectual disabilities. Heterozygous variants of the KMT2D and KDM6A genes are major genetic causes of KS. This study aimed to report the clinical and genetic characteristics of KS. METHODS: This study included 28 Korean patients...

Topics

Humans
Female
Vestibular Diseases
Hematologic Diseases
Male
Histone Demethylases
Child, Preschool
Face
Infant
Abnormalities, Multiple
Republic of Korea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA-Binding Proteins

Neoplasm Proteins

Genetic Association Studies

Exome Sequencing

Mutation

Phenotype

Intellectual Disability

Source

Open in PubMed

Identifiers

PMID: 38824232
DOI: 10.1038/s10038-024-01258-1

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

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