Associated Papers
Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.
Oza PS et al.
Journal of Human Genetics, 2025
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED).
Watanabe D et al.
European Journal of Medical Genetics, 2025
Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.
Waheed-Ullah Q et al.
Journal of Anatomy, 2024
38419169 (PubMed )
Supplement: JOA-245-70-s001.pdf
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.
Leduc F et al.
European Journal of Medical Genetics, 2024
Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease.
Massadeh S et al.
Genes, 2021
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