Article
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
American journal of human genetics - 4 Feb 2021
Chen Na, Zhao Sen, Jolly Angad, Wang Lianlei, Pan Hongxin, Yuan Jian, Chen Shaoke, Koch André, Ma Congcong, Tian Weijie, Jia Ziqi, Kang Jia, Zhao Lina, Qin Chenglu, Fan Xin, Rall Katharina, Coban-Akdemir Zeynep, Chen Zefu, Jhangiani Shalini, Liang Ze, Niu Yuchen, Li Xiaoxin, Yan Zihui, Wu Yong, Dong Shuangshuang, Song Chengcheng, Qiu Guixing, Zhang Shuyang, Liu Pengfei, Posey Jennifer E, Zhang Feng, Luo Guangnan, Wu Zhihong, Su Jianzhong, Zhang Jianguo, Chen Eugenia Y, Rouskas Konstantinos, Glentis Stavros, Bacopoulou Flora, Deligeoroglou Efthymios, Chrousos George, Lyonnet Stanislas, Polak Michel, Rosenberg Carla, Dingeldein Irene, Bonilla Ximena, Borel Christelle, Gibbs Richard A, Dietrich Jennifer E, Dimas Antigone S, Antonarakis Stylianos E, Brucker Sara Y, Lupski James R, Wu Nan, Zhu Lan
Abstract excerpt
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects...
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