Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
Megan Soucy, Masha Kolesnikova, Angela H. Kim, Stephen H. Tsang
Topics & Concepts
PenetranceGeneticsPhenotypeBiologyDystrophyMedicineGeneWnt/β-catenin signaling in development and cancerProtein Tyrosine PhosphatasesRetinal Development and Disorders