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

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 relatives...

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Detalles Bibliográficos
Autores principales: Dworschak, Gabriel C., Zwink, Nadine, Schmiedeke, Eberhard, Mortazawi, Kiarasch, Märzheuser, Stefanie, Reinshagen, Konrad, Leonhardt, Johannes, Gómez, Barbara, Volk, Patrick, Rißmann, Anke, Jenetzky, Ekkehart, Reutter, Heiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729416/
https://www.ncbi.nlm.nih.gov/pubmed/29237507
http://dx.doi.org/10.1186/s13023-017-0729-7

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