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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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| 發表在: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2017
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| 主題: | |
| 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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