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