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Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
BACKGROUND: Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses along a variable portion of the intestinal tract. In approximately 18% of the cases HSCR also presents with multiple congeni...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2955569/ https://ncbi.nlm.nih.gov/pubmed/20860806 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-137 |
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