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Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina

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), w...

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Detalles Bibliográficos
Autores principales: Zhang, Wei, Zhou, Xueya, Liu, Liyang, Zhu, Ying, Liu, Chunmei, Pan, Hong, Xing, Qiong, Wang, Jing, Wang, Xi, Zhang, Xuegong, Cao, Yunxia, Wang, Binbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352441/
https://www.ncbi.nlm.nih.gov/pubmed/28061432
http://dx.doi.org/10.18632/oncotarget.14455