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
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
34782440 (PubMed )
Supplement: jmedgenet-2021-108027supp001.pdf
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
Díaz-González F et al.
Journal of Medical Genetics, 2022
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