Glial Cell Line–Derived Neurotrophic Factor Family Receptors Are Abnormally Expressed in Aganglionic Bowel of a Subpopulation of Patients with Hirschsprung's Disease
نویسندگان
چکیده
منابع مشابه
SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants.
BACKGROUND The primary pathology of Hirschsprung's disease (HD) is a congenital absence of ganglion cells in the caudal most gut. The spastic aganglionic bowel is often innervated by a network of hypertrophied nerve fibres. Recently, mutations of SOX10 have been identified in patients with HD but only in those with Waardenburg-Shah syndrome. AIMS To understand the molecular basis for the path...
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ژورنال
عنوان ژورنال: Laboratory Investigation
سال: 2002
ISSN: 0023-6837,1530-0307
DOI: 10.1097/01.lab.0000017364.13014.ae