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Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

14 Jan 2013

Abstract excerpt

Hirschsprung disease (HSCR) is a congenital malformation of the hindgut resulting from a disruption of neural crest cell migration during embryonic development. It has a complex genetic aetiology with several genes involved in its pathogenesis. PHOX2B plays a key function in the development of neural crest derivatives, and heterozygous mutations cause a complex dysautonomia associating HSCR, Congenital Central...

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PMID: 23342068
DOI: 10.1371/journal.pone.0054043

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