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
Jansen de Vries syndrome: Report of four new patients and review of the literature.
Tuiskula A et al.
European Journal of Medical Genetics, 2023
Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.
Zhou X et al.
Journal of Clinical Laboratory Analysis, 2020
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