7039 Isolated Gonadotropin Deficiency Transmitted From Mother to Daughter Conceived Through Assisted Reproduction Due Newly Identified, Autosomal Dominant Mutation Within the SOX10 Gene
7039 例孤立性促性腺激素缺乏症,由辅助生殖技术受孕的女儿从母亲遗传,病因是新发现的 SOX10 基因内的常染色体显性突变。
期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0258648
Aruffo, Elena; Yuan, Pei; Tan, Yi; Gatov, Evgenia; Gournis, Effie; Collier, Sarah; Ogden, Nick; Bélair, Jacques; Zhu, Huaiping; Bakjaji, Shadi; Hoffman, Robert Paul