Hirschsprung's disease: Dissecting complexity in a pathogenetic network

Lancet

Volumn 359, Issue 9313, 2002, Pages 1169-1170

  McCabe, Edward R B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROTROPHIC FACTOR; NEURTURIN;

GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; HAPLOTYPE; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; INHERITANCE; NOTE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEOMICS; PROTO ONCOGENE;

EID: 0037029388     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(02)08249-1     Document Type: Note

References (11)

1. Monogenic traits are not simple: Lessons from phenylketonuria
2. Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers and systems dynamics
3. Modifier genes convert "simple" Mendelian disorders to complex traits
4. Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease
5. Mutations in Hirschsprung disease: When does a mutation contribute to the phenotype?
6. Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease
7. A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
8. Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
9. Heterozygosity: An expanding role in proteomics
10. Hirschsprung's disease in a family with multiple endocrine neoplasia type 2
11. Multiple endocrine neoplasia type IIB with symptoms suggesting Hirschsprung's disease: A case report