Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective
This case emphasizes the expanding phenotypic spectrum of JDVS and illustrates the diagnostic value of trio-WES in neurodevelopmental disorders with overlapping features. It also highlights the potential for discordant phenotypic expression in twins and the need for individualized diagnostic assessment.
Authors
- Inmaculada Ortiz‐Martín
- Francisco Javier Mérida de la Torre (ORCID: https://orcid.org/0000-0002-1545-3665)
- Javier Porta Pelayo
Institutions
- Hospital Regional Universitario de Málaga (ES)
- Universidad de Málaga (ES)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-06-24
- DOI
- https://doi.org/10.3389/fgene.2025.1601752
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00