KDSR基因的纯合子突变可能导致1例患儿的角化异常和血小板减少
刘超, 陈晓燕, 吴文齐, 竺晓凡
A Homozygotic Mutation in KDSR may Cause Keratinization Disorders and Thrombocytopenia: A Case Report
Liu Chao, Chen Xiaoyan, Wu Wenqi, Zhu Xiaofan
Chinese Medical Sciences Journal . 2020, (3): 278 -282 .  DOI: 10.24920/003656

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