Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
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
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
Alghaith FA et al.
American Journal of Medical Genetics. Part A, 2023
Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies.
Lu G et al.
Frontiers in Molecular Neuroscience, 2022
36568277 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.
Alter S et al.
Journal of Medical Genetics, 2021
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