Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality. [electronic resource]
Producer: 20020905Description: 1117-22 p. digitalISSN:- 1531-5037
- Adult
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 13
- Chromosomes, Human, Pair 2
- Codon, Nonsense
- DNA-Binding Proteins -- metabolism
- Female
- Hirschsprung Disease -- diagnosis
- Homeodomain Proteins -- genetics
- Humans
- Infant, Newborn
- Male
- Repressor Proteins -- genetics
- Retrospective Studies
- Sequence Deletion
- Smad Proteins
- Trans-Activators -- metabolism
- Translocation, Genetic
- Zinc Finger E-box Binding Homeobox 2
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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