Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

<p>Abstract</p> <p>Background</p> <p>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...

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Príomhchruthaitheoirí: Antiñolo Guillermo (Údar), González-Meneses Antonio (Údar), Núñez-Torres Rocío (Údar), Fernández Raquel M (Údar), Borrego Salud (Údar)
Formáid: LEABHAR
Foilsithe / Cruthaithe: BMC, 2010-09-01T00:00:00Z.
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