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Article

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

BMC pediatrics - 19 Feb 2024

Wang Yirou, Xu Yufei, Chen Yao, Hu Yabin, Li Qun, Liu Shijian, Wang Jian, Wang Xiumin

Abstract excerpt

BACKGROUND: Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. Lysine demethylase 6A, (KDM6A, MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (KS2, MIM#300867), which accounts for only 5%-8% of KS. Previous studies suggested that female patients with KS2 may have a milder phenotype. METHOD: We summarized the...

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Identifiers

PMID: 38373926
DOI: 10.1186/s12887-024-04562-z
PMCID: PMC10875883

Genes

KDM6A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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