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,Andre Koch,Yuanqiang Zhang,Chenglu Qin,Ximena Bonilla,Christelle Borel,Katharina Rall,Zefu Chen,Shalini Jhangiani,Yuchen Niu,Xiaoxin Li,Guixing Qiu,Shuyang Zhang,Guangnan Luo,Zhihong Wu,Flora Bacopoulou,Efthymios Deligeoroglou,Terry 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 GENETICS IN MEDICINE(2022)
Key words
Functional assessment,Genetic etiology,Mayer-Rokitansky-Kuster-Hauser syndrome,TBX6 (T-box transcription factor 6),Variants
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