Associated Papers
Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.
Zhuang J et al.
Human Genomics, 2026
A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K et al.
European Journal of Human Genetics : Ejhg, 2024
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E et al.
European Journal of Human Genetics : Ejhg, 2023
Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation.
Li X et al.
Bmc Pregnancy and Childbirth, 2021
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