Nagaya, Masahiro Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality. [electronic resource] - Journal of pediatric surgery Aug 2002 - 1117-22 p. digital Publication Type: Journal Article; Research Support, Non-U.S. Gov't ISSN: 1531-5037 Standard No.: 10.1053/jpsu.2002.34455 doi Subjects--Topical Terms: AdultChildChromosome MappingChromosomes, Human, Pair 13Chromosomes, Human, Pair 2Codon, NonsenseDNA-Binding Proteins--metabolismFemaleHirschsprung Disease--diagnosisHomeodomain Proteins--geneticsHumansInfant, NewbornMaleRepressor Proteins--geneticsRetrospective StudiesSequence DeletionSmad ProteinsTrans-Activators--metabolismTranslocation, GeneticZinc Finger E-box Binding Homeobox 2