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Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease
Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. The HSCR phenotype is highly variable with respect to gender, length of aganglionosis, familiality and the presence of additional anomalies. B...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3119685/ https://ncbi.nlm.nih.gov/pubmed/21712996 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0021219 |
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