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DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation 期刊论文
发表期刊: HUMAN GENETICS. 出版年: 2020, 卷号: 139, 期号: 11, 页码: 1455-1470
作者:  Elzaiat, Maeva;  Flatters, Delphine;  Carolina Sierra-Diaz, Diana;  Legois, Berangere;  Laissue, Paul;  Veitia, Reiner A.
收藏  |  浏览/下载：11/0  |  提交时间：2020/07/01
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations 期刊论文
发表期刊: CLINICAL ENDOCRINOLOGY. 出版年: 2017, 卷号: 87, 期号: 5, 页码: 539-544
作者:  Paris, Francoise;  Flatters, Delphine;  Caburet, Sandrine;  Legois, Berangere;  Servant, Nadege;  Lefebvre, Herve;  Sultan, Charles;  Veitia, Reiner A.
收藏  |  浏览/下载：17/0  |  提交时间：2019/11/29
46  XY DSD  desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis