A case series of a mother and two daughters with a <i>GLI2</i> gene deletion demonstrating variable expressivity and incomplete penetrance
Cameron J. Elward, Janet Berg, John M. Oberlin, Luis Rohena
Abstract
This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.
Topics & Concepts
PenetranceExpressivityInheritance (genetic algorithm)GeneticsGeneMedicineSeries (stratigraphy)PhenotypeBiologyPaleontologyHedgehog Signaling Pathway StudiesCongenital Ear and Nasal AnomaliesOral and gingival health research