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Article

Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.

Journal of human genetics - 1 Mar 2026

Oza Prachi Sandeep, Uttarilli Anusha, Shreya Parthasarathi K T, Viswanathan Sruthi, Sharma Jyoti, V S Kiran, Patil Siddaramappa J

Abstract excerpt

Congenital heart disease and ectodermal dysplasia syndrome (CHDED syndrome) (MIM: 617364) is an autosomal dominant disorder cause by PRKD1 gene pathogenic variants, characterised mainly by congenital heart defects (CHD) and ectodermal dysplasia, along with other variable clinical features (including skeletal defects). Whole exome sequencing was performed on a 7-year-old male proband with CHD, born of...

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Identifiers

PMID: 41136760
DOI: 10.1038/s10038-025-01415-0

Genes

PRKD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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