Publications by authors named "Sam Connors"
Context: The WNT/β-catenin pathway is central to the pathogenesis of various human diseases including those affecting bone development and tumor progression.
Objective: To evaluate the role of a gain-of-function variant in CTNNB1 in a child with a sclerosing bone dysplasia and an adrenocortical adenoma.
Design: Whole exome sequencing with corroborative biochemical analyses.