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A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with ≈50% of familial cases being heterozygous for mutations in the receptor tyrosine kinase RET. Even...
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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
The National Academy of Sciences
2000
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC26652/ https://ncbi.nlm.nih.gov/pubmed/10618407 |
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