A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene. - Hofstaetter JG; Atkins GJ; Kato H; Kogawa M; Blouin S; Misof BM; Roschger P; Evdokiou A; Yang D; Solomon LB; Findlay DM; Ito N (Calcified tissue international, 2022)