Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.
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| Title: | Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant. |
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| Authors: | Oza PS; Manipal Academy of Higher Education, Manipal, India.; Institute of Bioinformatics, Bengaluru, India., Uttarilli A; Manipal Academy of Higher Education, Manipal, India.; Institute of Bioinformatics, Bengaluru, India., Shreya Parthasarathi KT; Manipal Academy of Higher Education, Manipal, India.; Institute of Bioinformatics, Bengaluru, India., Viswanathan S; Institute of Bioinformatics, Bengaluru, India., Sharma J; Manipal Academy of Higher Education, Manipal, India.; Institute of Bioinformatics, Bengaluru, India., V S K; Department of Paediatric Cardiology, Narayana Hrudayalaya Institute of Cardiac Sciences, Bengaluru, India., Patil SJ; Division of Medical Genetics, Mazumdar-Shaw Medical Centre, Narayana Hrudayalaya Hospitals, Bengaluru, India. drsjpatil@gmail.com. |
| Source: | Journal of human genetics [J Hum Genet] 2026 Mar; Vol. 71 (3), pp. 177-184. Date of Electronic Publication: 2025 Oct 24. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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