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Article

Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.

Orphanet journal of rare diseases - 22 Nov 2025

Yang Tingting, Fang Danfeng, Zhu Wenqi, Wang Lili, Dai Weiqian, Xiao Bing, Shen Lixiao, Zhan Yongkun, Yu Yongguo, Xu Na

Abstract excerpt

OBJECTIVES: To provide the molecular characterizations and clinical profiles in patients with KLEFS1(Kleefstra syndrome 1) of Chinese ethic group and explore the genotype-phenotype correlation in this underrepresented population. METHODS: A total of 35 Mainland Chinese patients with KLEFS1 were reported in the present study. The clinical data were assessed through reviewing medical records and standardized...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41275302
DOI: 10.1186/s13023-025-04076-6
PMCID: PMC12821790

Genes

EHMT1

Provenance

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