Article
Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina.
Oncotarget - 31 Jan 2017
Zhang Wei, Zhou Xueya, Liu Liyang, Zhu Ying, Liu Chunmei, Pan Hong, Xing Qiong, Wang Jing, Wang Xi, Zhang Xuegong, Cao Yunxia, Wang Binbin
Abstract excerpt
Congenital absence of the uterus and vagina (CAUV) is the most extreme female Müllerian duct abnormality. Several researches proposed that genetic factors contributed to this disorder, whereas the precise genetic mechanism is far from full elucidation. Here, utilizing whole-exome sequencing (WES), we identified one novel missense mutation in LHX1 (NM_005568: c.G1108A, p.A370T) in one of ten unrelated patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.