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
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.
Kamdar P et al.
Clinical Genetics, 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
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
Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).
Kumar M et al.
Stem Cell Research, 2021
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