<i>SOX10</i> is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants

Abstract excerpt

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 pathogenesis of HD we...

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