More recently, biallelic variants in PRKG2, encoding cGMP-dependent protein kinase II (PKG II), have been identified as a novel cause of acromesomelic dysplasia (Kumar et al., 2021; Díaz-González et al., 2022; Pagnamenta et al., 2022; Mollaoğlu et al., 2023; Akgun-Dogan et al., 2024). Here, PRKG2 is linked to acromesomelic dysplasia.