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An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome

We report an interesting case of a male toddler with global developmental delay, dysmorphic facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent corpus callosum with large doubly committed ventricular septal defect (VSD) and 8p23.3p23.1 deletion and 8p23.1p11.1 intersti...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Kumar, Vivek, Roy, Shuvendu, Kumar, Gaurav
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2018
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6087472/
https://ncbi.nlm.nih.gov/pubmed/30105121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1637730
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