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 novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Li Q et al.
Orphanet Journal of Rare Diseases, 2024
Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation.
Li X et al.
Bmc Pregnancy and Childbirth, 2021
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