CTNNB1 and Osteopenia: Studies with mice have shown that β‐catenin is necessary for controlling bone development and homeostasis.(44, 45) Stabilization of β‐catenin in mature osteoblasts leads to high bone mass phenotype, whereas lack of β‐catenin leads to osteopenia in mice.(46) DKK1 is an inhibitor of WNT signaling and variants in DKK1 have been associated with juvenile osteoporosis.(47)CTNNB1 and DKK1 were upregulated by c.1282C > T/p.Arg428* compared with ZNF528‐WT, suggesting that the variant might contribute to the patients' phenotype via this pathway.