Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Ku spacing diaeresis ster-Hauser syndrome

Ma, Congcong; Chen, Na; Jolly, Angad; Zhao, Sen; Coban-Akdemir, Zeynep; Tian, Weijie; Kang, Jia; Ye, Yang; Wang, Yuan; Koch, Andre; Zhang, Yuanqiang; Qin, Chenglu; Bonilla, Ximena; Borel, Christelle; Rall, Katharina; Chen, Zefu; Jhangiani, Shalini; Niu, Yuchen; Li, Xiaoxin; Qiu, Guixing; Zhang, Shuyang; Luo, Guangnan; Wu, Zhihong; Bacopoulou, Flora; Deligeoroglou, Efthymios; Zhang, Terry Jianguo; Rosenberg, Carla; Gibbs, Richard A.; Dietrich, Jennifer E.; Dimas, Antigone S.; Liu, Pengfei; Antonarakis, Stylianos E.; Brucker, Sara Y.; Posey, Jennifer E.; Lupski, James R.; Wu, Nan; Zhu, Lan

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Ku spacing diaeresis ster-Hauser syndrome

Autor(en):

Ma, Congcong; Chen, Na; Jolly, Angad; Zhao, Sen; Coban-Akdemir, Zeynep; Tian, Weijie; Kang, Jia; Ye, Yang; Wang, Yuan; Koch, Andre; Zhang, Yuanqiang; Qin, Chenglu; Bonilla, Ximena; Borel, Christelle; Rall, Katharina; Chen, Zefu; Jhangiani, Shalini; Niu, Yuchen; Li, Xiaoxin; Qiu, Guixing; Zhang, Shuyang; Luo, Guangnan; Wu, Zhihong; Bacopoulou, Flora; Deligeoroglou, Efthymios; Zhang, Terry Jianguo; Rosenberg, Carla; Gibbs, Richard A.; Dietrich, Jennifer E.; Dimas, Antigone S.; Liu, Pengfei; Antonarakis, Stylianos E.; Brucker, Sara Y.; Posey, Jennifer E.; Lupski, James R.; Wu, Nan; Zhu, Lan

Tübinger Autor(en):

Rall, Katharina
Koch, André
Brucker, Sara

Erschienen in:

Genetics in Medicine (2022), Bd. 24, H. 11, S. 2262-2273

Verlagsangabe:

Elsevier Science Inc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.gim.2022.08.012

ISSN:

1098-3600