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Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.

Clinical Genetics, December 2023

This graphic abstract combines pedigree, dysmorphology features, radiographs, and the PRKG2 protein domain, specifically the CNB-A regulatory domain, which harbors a mutation resulting in premature protein termination.

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  https://onlinelibrary.wiley.com/doi/10.1111/cge.14465

 

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