5q11.2 deletion in a patient with tracheal agenesis

Tracheal agenesis (TA) is a rare congenital anomaly of the respiratory tract. Many patients have associated anomalies, suggesting a syndromal phenotype. In a cohort of 12 patients, we aimed to detect copy number variations. In addition to routine cytogenetic analysis, we applied oligonucleotide arra...

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Detalhes bibliográficos
Main Authors: de Jong, Elisabeth M, Douben, Hannie, Eussen, Bert H, Felix, Janine F, Wessels, Marja W, Poddighe, Pino J, Nikkels, Peter G J, de Krijger, Ronald R, Tibboel, Dick, de Klein, Annelies
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987473/
https://ncbi.nlm.nih.gov/pubmed/20551993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.84
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