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

• Main Authors: Antiñolo Guillermo (Author), González-Meneses Antonio (Author), Núñez-Torres Rocío (Author), Fernández Raquel M (Author), Borrego Salud (Author)
• Format: Book
• Published: BMC, 2010-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...