首页> European journal of medical genetics> A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses.

A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses.

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第一作者： Haihua,Yang

第一单位： Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital (aka. Children's Hospital Affiliated to Zhengzhou University), No-33, Longhu Waihuan East Road, Zhengzhou, 450018, China.

作者： Haihua,Yang ^[1] ; Haiyan,Wei ^[2] ; Linghua,Shen ^[1] ; Selvaa,Kumar C ^[3] ; Qiong,Chen ^[1] ; Yongxing,Chen ^[1] ; Senthil Arun,Kumar ^[4]

作者单位： Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital (aka. Children's Hospital Affiliated to Zhengzhou University), No-33, Longhu Waihuan East Road, Zhengzhou, 450018, China. ^[1] Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital (aka. Children's Hospital Affiliated to Zhengzhou University), No-33, Longhu Waihuan East Road, Zhengzhou, 450018, China. Electronic address: haiyanwei2009@163.com. ^[2] School of Biotechnology and Bioinformatics, D. Y. Patil Deemed to Be University, Sector-15, CBD Belapur. Navi Mumbai, 400614, India. ^[3] Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital (aka. Children's Hospital Affiliated to Zhengzhou University), No-33, Longhu Waihuan East Road, Zhengzhou, 450018, China. Electronic address: drsakbiomed1727@outlook.com. ^[4]

关键词 Adrenal hypoplasia congenital DAX1-SF1 (protein-protein) interaction Hypothalamic-pituitary-gonadal/adrenal axis Prolonged precocious puberty Stop-loss DAX1 variant