Associated Papers
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.
D'Angelo E et al.
Clinical Epigenetics, 2025
Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review.
Wu K et al.
Frontiers in Genetics, 2024
Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report.
Dong P et al.
European Journal of Medical Genetics, 2023
Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Brereton RE et al.
American Journal of Medical Genetics. Part A, 2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer R et al.
Orphanet Journal of Rare Diseases, 2021
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