A recent study identifies a combined phenotype of skeletal dysplasia and vasculopathy linked to an in-frame intragenic deletion in the PRKACA gene. This discovery enhances understanding of the genetic underpinnings of these rare conditions.
combined skeletal dysplasia and vasculopathy phenotypes associated with in frame intragenic deletion in prkaca
Original title: “Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA.”