Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA
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Pathogenic missense variants in PRKACA cause craniofacial, skeletal, and cardiac defects similar to Ellis-van Creveld syndrome. We report an individual with a previously unreported, de novo 3 amino acid deletion in PRKACA, identified on trio genome sequencing,... ...
