Baidu
map

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

Ma, CC; Chen, N; Jolly, A; Zhao, S; Coban-Akdemir, Z; Tian, WJ; Kang, J; Ye, Y; Wang, Y; Koch, A; Zhang, YQ; Qin, CL; Bonilla, X; Borel, C; Rall, K; Chen, ZF; Jhangiani, S; Niu, YC; Li, XX; Qiu, GX; Zhang, SY; Luo, GN; Wu, ZH; Bacopoulou, F; Deligeoroglou, E; Zhang, TJG; Rosenberg, C; Gibbs, RA; Dietrich, JE; Dimas, AS; Liu, PF; Antonarakis, SE; Brucker, SY; Posey, JE; Lupski, JR; Wu, N; Zhu, L

Wu, N (通讯作者),Peking Union Med Coll & Chinese Acad Med Sci, Dept Orthoped Surg, Peking Union Med Coll Hosp,State Key Lab Complex, Beijing Key Lab Genet Res Skeletal Deform,Key Lab, 1 Shuaifuyuan, Beijing 100730, Peoples R China.;Zhu, L (通讯作者),Peking Union Med Coll & Chinese Acad Med Sci, Dept Obstet & Gynecol, State Key Lab Complex Severe & Rare Dis, Peking Union Med Coll Hosp, 1 Shuaifuyuan, Beijing 100730, Peoples R China.

GENETICS IN MEDICINE, 2022; 24 (11): 2262

Abstract

Purpose: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus, cervix, and the upper part of the vagin......

Full Text Link


Baidu
map
Baidu
map
Baidu
map