Associated Papers
A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia.
Mäkeläinen S et al.
Plos One, 2025
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
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.
Akgun-Dogan O et al.
European Journal of Human Genetics : Ejhg, 2024
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.
Mollaoğlu E et al.
Clinical Genetics, 2023
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT et al.
Journal of Medical Genetics, 2022
Select a paper to view details