NPR2 and acromesomelic dysplasia 1, Maroteaux type: To date, 71 pathogenic mutations in NPR2 have been shown to be associated with AMDM based on an inclusive review of the literature (Mustafa et al., 2020; Simsek-Kiper et al., 2021) (including the two current cases) and two databases (Human Gene Mutation Database and Leiden Open Variation Database; Supplementary Table S6; Supplementary Figure S7), including 39 missense mutations, 15 nonsense mutations, six splicing mutations, 10 deletions, and one insertion.