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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...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955569/ https://www.ncbi.nlm.nih.gov/pubmed/20860806 http://dx.doi.org/10.1186/1471-2350-11-137 |