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Article

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.

BMC medical genetics - 27 Feb 2018

Xin Chengqi, Wang Chun, Wang Yachen, Zhao Jingyuan, Wang Liang, Li Runjie, Liu Jing

Abstract excerpt

BACKGROUND: Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS. CASE PRESENTATION: Here we report two Chinese boys with clinical features of KS referred to our hospital for clinical diagnosis....

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Identifiers

PMID: 29482518
DOI: 10.1186/s12881-018-0545-5
PMCID: PMC6389055

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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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