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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals LLC
2017
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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 |