期刊
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
卷 49, 期 5, 页码 716-718出版社
CAMBRIDGE UNIV PRESS
DOI: 10.1017/cjn.2021.201
关键词
DCAF17; C2orf37; Dystonia; Hypogonadism; Alopecia; Deafness; Ribosomopathy