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Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

Genomic disorders and rare copy number abnormalities are identified in 15–25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear. A spectrum of congenital heart defects (CHDs) is seen in heterotaxy, a highly heritable and genetically...

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Detalhes bibliográficos
Publicado no:Philos Trans R Soc Lond B Biol Sci
Main Authors: Cowan, Jason R., Tariq, Muhammad, Shaw, Chad, Rao, Mitchell, Belmont, John W., Lalani, Seema R., Smolarek, Teresa A., Ware, Stephanie M.
Formato: Artigo
Idioma:Inglês
Publicado em: The Royal Society 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5104505/
https://ncbi.nlm.nih.gov/pubmed/27821535
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1098/rstb.2015.0406
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