Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
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K. Murayama | V. Zhang | Fang Fang | Weihua Zhang | W. Shi | Zhimei Liu | Li Zhang | Xiao-hui Wang | Masaru Shimura | Minako Ogawa-Tominaga | Junling Wang | Junlan Lv | Jianing Wang