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8p 11 Microduplication Is Associated with Neonatal Stridor

We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ∼846-kb interstitial duplication of the short arm of chromosome 8 (8p11.21p11.1). We repo...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Puvabanditsin, Surasak, Gengel, Natalie, Botti, Christina, Jacob, Marianne, Jalil, Maaz, Cabrera, Kenya, Mehta, Rajeev
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6381896/
https://ncbi.nlm.nih.gov/pubmed/30800050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000494796
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