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46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene 期刊论文
发表期刊: HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM. 出版年: 2019, 卷号: 18, 期号: 3, 页码: 315-320
作者:  Neocleous, Vassos;  Fanis, Pavlos;  Cinarli, Feride;  Kokotsis, Vasilis;  Oulas, Anastasios;  Toumba, Meropi;  Spyrou, George M.;  Phylactou, Leonidas A.;  Skordis, Nicos
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Primary amenorrhea  46XY  Gonadal dysgenesis  Desert hedgehog  DHH gene