Associated Papers
Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.
Akimova D et al.
Frontiers in Genetics, 2025
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.
Kamdar P et al.
Clinical Genetics, 2024
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