Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

• Asıl Yazarlar: Erika T. Allred (Yazar), Elliot A. Perens (Yazar), Nicole G. Coufal (Yazar), Erica Sanford Kobayashi (Yazar), Stephen F. Kingsmore (Yazar), David P. Dimmock (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

BackgroundCongenital heart defects (CHD) and congenital anomalies of the kidney and urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of monogenic causes of anomalies in each organ system have been identified. However, even though 30% of CHD patients also hav...