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Article

De Novo Heterozygous KDM3B Variants Expand the Mutational Spectrum of Diets-Jongmans Syndrome: Case Series and Literature Review.

Genes - 28 Feb 2026

Miao Haixia, Zhang Ting, Chen Shuai, Xu Xiaocha, Fang Kexin, Wu Dingwen, Zhang Yi, Huang Xinwen

Abstract excerpt

BACKGROUND: Pathogenic variants in KDM3B have been implicated as the cause of Diets-Jongmans syndrome (DIJOS), an autosomal-dominant disorder characterized by growth retardation, intellectual disability, facial dysmorphism and autism-spectrum disorder. However, only a limited number of cases have been reported. METHODS: The general characteristics of four patients were recorded, including clinical features, child...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41898828
DOI: 10.3390/genes17030294
PMCID: PMC13025784

Genes

KDM3B

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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