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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
36118902 (PubMed )
Supplement: DataSheet1.XLSX › TableS3
Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation.
Li X et al.
Bmc Pregnancy and Childbirth, 2021
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
33477564 (PubMed )
Supplement: ijms-22-00911-s001.zip › Updated_Supplementary_Tables_011721 › Supplementary_Table_S1_final_version.xlsx › MGS
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