ArticleInternational journal of molecular sciences2022
Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.
Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.Clinical genetics · 2026Review
- Recent Advances in Vaginal Atresia: A Literature Review.Biomedicines · 2025Review
- Efficacy and safety of laparoscopic vaginoplasty with peritoneal flaps and cervicoplasty in patients with congenital cervical and complete vaginal atresia: a pilot study.Quantitative imaging in medicine and surgery · 2024Article
- A Chinese patient with Rothmund-Thomson syndrome.Molecular genetics & genomic medicine · 2024Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Distal vaginal atresia is a rare abnormality of female reproductive tract in which the vagina is closed or absent. The distal vagina may be replaced by fibrous tissue and the condition is often not diagnosed until a girl fails to begin having periods at puberty. Although it is a congenital disorder, potential genetic causes of distal vaginal atresia are still unknown. We recruited a cohort of 39 patients with distal vaginal atresia and analyzed their phenotypic and genetic features. In addition to the complaint of distal vaginal atresia, approximately 17.9% (7/39) of the patients had other Müllerian anomalies, and 17.9% (7/39) of the patients had other structural abnormalities, including renal-tract, skeletal and cardiac anomalies. Using genome sequencing, we identified two fragment duplications on 17q12 encompassing
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