Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability - Zhang, Chaofan; Jolly, Angad; Shayota, Brian J.; Mazzeu, Juliana F.; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; Lima, Ariadne Ramalho de; Ferreira, Bárbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Martelli, Lucia Regina (Human Genetics and Genomics Advances, 2022)