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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Pediatr Genet |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Georg Thieme Verlag KG
2018
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| Διαθέσιμο Online: | 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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