The New England journal of medicine, 2019-04, Vol.380 (15), p.1421-1432
2019
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Details
- Autor(en) / Beteiligte
- Titel
- Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease
- Ist Teil von
- The New England journal of medicine, 2019-04, Vol.380 (15), p.1421-1432
- Ort / Verlag
- United States: Massachusetts Medical Society
- Erscheinungsjahr
- 2019
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Understanding the nature of the genetic risk of complex diseases is becoming easier, thanks to advances in genomic analyses. This study implicates three types of risk variant for Hirschsprung’s disease and shows that the genotype-specific incidence of the disease varies by a factor more than 100.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0028-4793eISSN: 1533-4406DOI: 10.1056/NEJMoa1706594Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6596298
- Format
- –
- Schlagworte
- Cell fate, Cell growth, Chromosomes, Disease, Embryos, Enteric nervous system, Exome, Families & family life, Female, Genes, Genetic counseling, Genetic Predisposition to Disease, Genetic Variation, Genomes, Genomics, Genotype, Genotype & phenotype, Genotypes, Heritability, Hirschsprung Disease - genetics, Humans, Infants, Intestine, Kinases, Male, Mutation, Neonates, Nervous system, Neurodevelopmental disorders, Non-coding RNA, Nucleotide sequence, Odds Ratio, Penetrance, Polymorphism, Protein-tyrosine kinase receptors, Ret protein, Sequence Analysis, DNA, Whole Exome Sequencing