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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Bibliografiska uppgifter
Huvudupphovsmän: Jiang, Qian, Ho, Yen-Yi, Hao, Li, Nichols Berrios, Courtney, Chakravarti, Aravinda
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2011
Ämnen:
Research Article
Länkar: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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