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

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

Abstract Background Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in r...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Anorectal malformation
ARM
Inheritance
Recurrence risk
Genetic counseling
Online Access:http://link.springer.com/article/10.1186/s13023-017-0729-7

Internet

http://link.springer.com/article/10.1186/s13023-017-0729-7

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