An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia.

CONCLUSION: Increased β-catenin activity associated with a de novo gain-of-function CTNNB1 variant is associated with osteosclerotic phenotype and adrenocortical neoplasia.
PMID: 31970420 [PubMed - as supplied by publisher]

Source: The Journal of Clinical Endocrinology and Metabolism - January 22, 2020 Category: Endocrinology Authors: Peng H, Jenkins ZA, White R, Connors S, Hunter MF, Ronan A, Zankl A, Markie DM, Daniel PB, Robertson SP Tags: J Clin Endocrinol Metab Source Type: research