Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

被引：0
作者：
Gabriel C. Dworschak
Nadine Zwink
Eberhard Schmiedeke
Kiarasch Mortazawi
Stefanie Märzheuser
Konrad Reinshagen
Johannes Leonhardt
Barbara Gómez
Patrick Volk
Anke Rißmann
Ekkehart Jenetzky
Heiko Reutter
机构：
[1] University of Bonn,Institute of Human Genetics
[2] University of Bonn,Department of Pediatrics, Children’s Hospital
[3] Division of Clinical Epidemiology and Aging Research,Department of Child and Adolescent Psychiatry
[4] German Cancer Research Center,Department of Pediatric Surgery, Campus Virchow Clinic
[5] University Medical Center of the Johannes Gutenberg University Mainz,Department of Surgery
[6] Department of Pediatric Surgery and Urology,Malformation Monitoring Centre Saxony
[7] Center for Child and Adolescent Health,Anhalt
[8] Hospital Bremen-Mitte,Department of Neonatology and Pediatric Intensive Care, Children’s Hospital
[9] Department of Pediatric Surgery,undefined
[10] Municipal Hospital,undefined
[11] Charité University Hospital Berlin,undefined
[12] Department of Pediatric Surgery,undefined
[13] University Medical Center Hamburg-Eppendorf/Altona Children’s Hospital,undefined
[14] Department of Pediatric Surgery,undefined
[15] St. Bernward-Hospital,undefined
[16] Department of Pediatric Surgery,undefined
[17] Children’s and Youth Hospital “Auf der Bult”,undefined
[18] University of Heidelberg,undefined
[19] Otto-von-Guericke University,undefined
[20] Child Center Maulbronn GmbH,undefined
[21] Hospital for Pediatric Neurology and Social Pediatrics,undefined
[22] University of Bonn,undefined
来源：
Orphanet Journal of Rare Diseases | / 12卷
关键词：
Anorectal malformation; ARM; Inheritance; Recurrence risk; Genetic counseling;
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