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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Detalles Bibliográficos
Autores principales: Fernández, Raquel M, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
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

Internet

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

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