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Article

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

BMC medical genetics - 21 Apr 2015

Liu Shuang, Hong Xiafei, Shen Cheng, Shi Quan, Wang Jian, Xiong Feng, Qiu Zhengqing

Abstract excerpt

BACKGROUND: Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D. METHODS: We retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents...

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Identifiers

PMID: 25896430
DOI: 10.1186/s12881-015-0171-4
PMCID: PMC4630853

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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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