Williams syndrome presenting with findings consistent with Alagille syndrome

Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotyp...

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Detaylı Bibliyografya
Yayımlandı:Clin Case Rep
Asıl Yazarlar: Sakhuja, Pankaj, Whyte, Hilary, Kamath, Binita, Martin, Nicole, Chitayat, David
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BlackWell Publishing Ltd 2015
Konular:
Case Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4317206/
https://ncbi.nlm.nih.gov/pubmed/25678968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.138
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