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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.
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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  Data: Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.
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  Data: <searchLink fieldCode="AU" term="%22Oza+PS%22">Oza PS</searchLink>; Manipal Academy of Higher Education, Manipal, India.; Institute of Bioinformatics, Bengaluru, India.<br /><searchLink fieldCode="AU" term="%22Uttarilli+A%22">Uttarilli A</searchLink>; Manipal Academy of Higher Education, Manipal, India.; Institute of Bioinformatics, Bengaluru, India.<br /><searchLink fieldCode="AU" term="%22Shreya+Parthasarathi+KT%22">Shreya Parthasarathi KT</searchLink>; Manipal Academy of Higher Education, Manipal, India.; Institute of Bioinformatics, Bengaluru, India.<br /><searchLink fieldCode="AU" term="%22Viswanathan+S%22">Viswanathan S</searchLink>; Institute of Bioinformatics, Bengaluru, India.<br /><searchLink fieldCode="AU" term="%22Sharma+J%22">Sharma J</searchLink>; Manipal Academy of Higher Education, Manipal, India.; Institute of Bioinformatics, Bengaluru, India.<br /><searchLink fieldCode="AU" term="%22V+S+K%22">V S K</searchLink>; Department of Paediatric Cardiology, Narayana Hrudayalaya Institute of Cardiac Sciences, Bengaluru, India.<br /><searchLink fieldCode="AU" term="%22Patil+SJ%22">Patil SJ</searchLink>; Division of Medical Genetics, Mazumdar-Shaw Medical Centre, Narayana Hrudayalaya Hospitals, Bengaluru, India. drsjpatil@gmail.com.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Mar; Vol. 71 (3), pp. 177-184. <i>Date of Electronic Publication: </i>2025 Oct 24.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s10038-025-01415-0
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      – TitleFull: Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.
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              Text: 2026 Mar
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