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A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.

Autor: Chi, Yunqian¹ (AUTHOR), Yao, Yi² (AUTHOR), Sun, Futao³ (AUTHOR), Zhang, Wenhong¹ (AUTHOR), Zhang, Zihan¹ (AUTHOR), Wang, Yunhe¹ (AUTHOR), Hao, Wei^1,4 (AUTHOR) haowei12875@163.com

Publikováno v: Italian Journal of Pediatrics. 6/24/2024, Vol. 50 Issue 1, p1-8. 8p.

Omphalocele, Exstrophy of Cloaca, Imperforate Anus and Spinal Defect - An Autopsy Report

Autor: Vipa Patel, Kinalee Chothani, Jaimin Patel, Akansha, Dhaneshwar N Lanjewar

Publikováno v: GAIMS Journal of Medical Sciences, Vol 3, Iss 1, Pp 29-32 (2023)

Cloacal exstrophy is a rare condition that occurs during the prenatal development of the lower abdominal wall. Cloacal exstrophy is also known as OEIS Syndrome because of the four features that are typically found together: Omphalocele, Exstrophy of

Externí odkaz: https://doaj.org/article/7227db96855f41a3a6697caa5f161d57

Pelvic Ectopic Kidney Prevalence and Pressure Changes During Cloacal Exstrophy (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Syndrome) Closure

Autor: Lee, Ted, Roth, Elizabeth, Shukla, Aseem, Gupta, Naveen, Lee, Richard, Kryger, John, Groth, Travis, Canning, Douglas, Mitchell, Michael, Weiss, Dana, Borer, Joseph

Publikováno v: In Urology November 2023 181:124-127

Perioperative Histologically Controlled Fistula Resection in Patients with Imperforate Anus and Perineal Fistula.

Autor: Skaba R; Department of Paediatric Surgery, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Dotlacil V; Department of Paediatric Surgery, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Fuccillo P; Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Rouskova B; Department of Paediatric Surgery, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Pos L; Department of Paediatric Surgery, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Rygl M; Department of Paediatric Surgery, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.

Publikováno v: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie [Eur J Pediatr Surg] 2024 Oct; Vol. 34 (5), pp. 418-422. Date of Electronic Publication: 2023 Nov 28.