Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source
Comparison between Effectiveness of Lactobacillus Acidophilus Suppository and Metronidazole Vaginal Tablet with Aim of Regulation of Vaginal PH in Patients with Bacterial Vaginosis [PDF]
Background & Objectives: Increase in vaginal pH is an indicator of bacterial vaginosis , changing a healthy acidic environment to a more acidic than 4.5.
محمدپوراصل, اصغر +5 more
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Pediatrics and Neonatology, 2012 Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis.
Tsung-Hsin Wu +6 more
doaj +1 more source
Modern competency‐based teaching of human sexual development
Anatomical Sciences Education, Volume 19, Issue 7, Page 1086-1096, July 2026.Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler +2 more
wiley +1 more source
Distal vaginal agenesis in monozygotic twins: case report
, 2008 Distal vaginal agenesis is one of the rarest congenital malformations of female genital tract. We describe successfully operated teenaged monozygotic twins by combined abdominal and perineal approach.
Ozkan, Sebiha Ozdemir +4 more
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Neovaginoplasty with pudendal thigh flap for repair of vaginal agenesis: A case report and review of literature: Neovaginoplasty using pudendal thigh flap [PDF]
, 2022 Surgical management of vaginal agenesis constitutes a significant technical challenge. The goal of vaginal reconstruction is to create a neovagina that is both functionally and aesthetically satisfactory using a simple and reliable technique applicable ...
Giri, Piyush +4 more
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Robotic approach to vaginal atresia repair in an adolescent girl
Urology Annals, 2015 A 9-year-old girl presented to us, after failed perineal approach for vaginal atresia, with abdominal pain. She was thoroughly evaluated and contrast enhanced computed tomographic was done, which revealed absence of lower 1/3 rd of vagina with normal ...
Praveen Pushkar +2 more
doaj +1 more source
The laparoscopic Vecchietti technique for vaginal agenesis
, 2007 OBJECTIVE: To evaluate surgical, long-term anatomic and functional results of the laparoscopic Vecchietti procedure to treat women with vaginal agenesis.
F.S. Camoglio +4 more
core +1 more source
Dentofacial Morphology in Third Molar Agenesis [PDF]
, 2015 Objective:In the literature, some studies show a relation between tooth agenesis and craniofacial morphology, whereas other authors conclude that dental agenesis exerts little influence on dent facial structures.
Ali ihya Karaman +4 more
core +1 more source
Neo-vagina reconstruction with gracilis myocutaneous island flaps in vaginal agenesis
, 1987 Vaginal agenesis sanıldığından daha sık karşılaşılan bir konjenital malformasyondur. Onarımında değişik yöntemler uygulana gelmiştir. Bu yazıda güncel bir yöntem olan grasilis kas deri flebi ile rekonstrüksiyon uyguladığımız iki olgu bildirilmiş, konuya ...
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