PRKG2 and acromesomelic dysplasia: We describe the clinical and molecular features of a female proband with a mild form of acromesomelic dysplasia, in whom we identified two novel compound-heterozygous variants in the PRKG2 gene: a LoF variant NM_006259.3:c.1074del (p.Ala359LeufsTer24) (ClinVar accession number: VCV004537385.1) and a missense variant NM_006259.3:c.1630G>T (p.Asp544Tyr) (ClinVar accession number: VCV004082151.1).