Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion

We report a preterm male neonate presenting with a lumbosacral meningomyelocele, type II Arnold Chiari malformation, hypoplasia of the aortic arch, bicuspid aortic valve, ventricular septal defect, secundum atrial septal defect, multicystic dysplastic kidney, and hydronephrosis. Analysis with whole...

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Detaylı Bibliyografya
Yayımlandı:Mol Syndromol
Asıl Yazarlar: Puvabanditsin, Surasak, Negroponte, Emily, Jang, Peter, Hedges, Amanda, Kased, Ramnan, Mehta, Rajeev
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2020
Konular:
Short Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6997795/
https://ncbi.nlm.nih.gov/pubmed/32021599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000503698
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