X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification and in vitro

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户：limutou

【摘要】

：

　　DAX1 is an orphan nuclear receptor that plays a key role in the development and function of the adrenal and reproductive axes.Mutations in the gene encoding

【作者】

：

TingtingYu[1]JianWang[1]YongguoYu[2]XiaodongHuang[3]YipingShen[4]

【机构】

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Institute for Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaoto

【出处】

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第十四次全国医学遗传学学术会议

【发表日期】

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2015年期

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　　DAX1 is an orphan nuclear receptor that plays a key role in the development and function of the adrenal and reproductive axes.Mutations in the gene encoding DAX1 (NROB1) result in X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG).

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X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification and in vitro

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