Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene
Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene
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由于涉及 SOX9 基因上游染色体 17q24.3 的相互易位,导致成人 acampomelic camomelic 发育不良和性发育障碍
DOI:
10.1016/j.ejmg.2021.104332
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发表时间:
2021
影响因子:
1.9
通讯作者:
Nakabayashi Kazuhiko
中科院分区:
文献类型:
--
作者:
Takano Takako;Ota Hideomi;Ohishi Hajime;Hata Kenichiro;Furukawa Rieko;Nakabayashi Kazuhiko