Copy Number Variants in a Population-Based Investigation of Klippel–Trenaunay Syndrome

Klippel–Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Dimopoulos, Aggeliki, Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Fan, Ruzong, Romitti, Paul A., Browne, Marilyn L., Druschel, Charlotte M., Caggana, Michele, Brody, Lawrence C., Mills, James L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6205266/
https://ncbi.nlm.nih.gov/pubmed/27901321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37868
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