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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書目詳細資料
發表在:Orphanet J Rare Dis
Main Authors: 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
格式: Artigo
語言:Inglês
出版: BioMed Central 2017
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5729416/
https://ncbi.nlm.nih.gov/pubmed/29237507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0729-7
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