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Article

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.

Human genomics - 31 Jan 2026

Zhuang Jianlong, Huang Nan, Wang Junyu, Chen Chunnuan

Abstract excerpt

BACKGROUND: Meier–Gorlin syndrome-7 (MGORS7) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in the CDC45 gene. This study aims to present two rare CDC45 gene variants and a familial 13q31.1q31.3 microduplication in a fetus with multiple ultrasound anomalies. METHODS: A fetus with multiple ultrasound anomalies including craniosynostosis, microtia, brachydactyly of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41620759
DOI: 10.1186/s40246-026-00922-1
PMCID: PMC12947483

Genes

CDC45

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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