A clinical and genotype-phenotype analysis of MACF1 variants. - Dekker J; Schot R; Aldinger KA; Everman DB; Washington C; Jones JR; Sullivan JA; Spillmann RC; Shashi V; Vitobello A; Denommé-Pichon AS; Mosca-Boidron AL; et al. (American journal of human genetics, 2025)