Associated Papers
Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective.
Merida De la Torre FJ et al.
Frontiers in Genetics, 2025
40630121 (PubMed )
Supplement: Table1.xlsx › Table_S1
Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome.
Li Z et al.
Molecular Genetics & Genomic Medicine, 2020
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen S et al.
American Journal of Human Genetics, 2017
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