Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in females. Whole-gene deletion and loss-of-function variants in TBX6 have been identified in association with MRKHS. We aimed to expand the spectrum of TBX6...

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Veröffentlicht in:	Genetics in medicine 2022-11, Vol.24 (11), p.2262-2273
Hauptverfasser:	Ma, Congcong, Chen, Na, Jolly, Angad, Zhao, Sen, Coban-Akdemir, Zeynep, Tian, Weijie, Kang, Jia, Ye, Yang, Wang, Yuan, Koch, André, 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
Format:	Artikel
Sprache:	eng
Schlagworte:	Functional assessment Genetic etiology Mayer-Rokitansky-Küster-Hauser syndrome TBX6 (T-box transcription factor 6) Variants
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