Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome
Congcong Ma, Na Chen, Angad Jolly, Sen Zhao, Zeynep Coban‐Akdemir, Weijie Tian, Jia Kang, Yang Ye, Yuan Wang, André Koch, Yuanqiang Zhang, Chenglu Qin, Ximena Bonilla, Christelle Borel, Katharina Rall, Zefu Chen, Shalini N. Jhangiani, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Yuanqiang Zhang, Guangnan Luo, Zhihong Wu, Flora Bacopoulou, Efthymios Deligeoroglou, Jianguo Zhang, Carla Rosenberg, Richard A. Gibbs, Jennifer E. Dietrich, Antigone S. Dimas, Pengfei Liu, Stylianos E. Antonarakis, Sara Y. Brucker, Jennifer E. Posey, James R. Lupski, Nan Wu, Lan Zhu
Topics & Concepts
Sanger sequencingExome sequencingBiologyGeneticsMedicineMutationGeneGynecological conditions and treatmentsCongenital heart defects researchGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities