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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Syndromol
Egile Nagusiak: Puvabanditsin, Surasak, Negroponte, Emily, Jang, Peter, Hedges, Amanda, Kased, Ramnan, Mehta, Rajeev
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2020
Gaiak:
Sarrera elektronikoa: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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