Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. - Fasham J; Lin S; Ghosh P; Radio FC; Farrow EG; Thiffault I; Kussman J; Zhou D; Hemming R; Zahka K; Chioza BA; Rawlins LE; et al. (Genetics in medicine : official journal of the American College of Medical Genetics, 2022)