Article
Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA.
HGG advances - 9 Jul 2026
Weaver K Nicole, Broeckel Jan W, Brown Kari, Wasserman Halley, Wu Jian, Neal Ashley, Prada Carlos E, Kleinschmidt Neil Lennart, Machal Erik M F, Bertinetti Daniela, Ruiz-Perez Victor L, Taylor Susan S, Brugmann Samantha A, Herberg Friedrich W
Abstract excerpt
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, and phenotypic features including severe neonatal hypotonia, appendicular skeletal abnormalities, osteopenia, aortic dilation, coronary dilation, and...
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