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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Detalles Bibliográficos
Autores principales: Jiang, Qian, Ho, Yen-Yi, Hao, Li, Nichols Berrios, Courtney, Chakravarti, Aravinda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119685/
https://www.ncbi.nlm.nih.gov/pubmed/21712996
http://dx.doi.org/10.1371/journal.pone.0021219

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119685/
https://www.ncbi.nlm.nih.gov/pubmed/21712996
http://dx.doi.org/10.1371/journal.pone.0021219

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