Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases - 22/06/22
Doi : 10.1016/j.jpeds.2022.03.023
Olivia L. Katz, MD 1, 2, ∗, K. Taylor Wild, MD 2, 3, ∗, Deborah McEldrew, BS 2, Maninder Kaur, MS 2, Sarah Raible, MS, LCGC 2, Cara M. Skraban, MD 2, 4, Elaine H. Zackai, MD 2, 4, Livija Medne, MS, LCGC 2, Kosuke Izumi, MD, PhD 2, 4, Sierra Fortunato, BS 2, Jamila Weatherly, MS 2, Tiffiney Hartman, PhD 2, Paul Deppen, MS 2, Justin Blair, MS 2 : MS, Batsal Devkota, PhD 2, 5, Emma Schindler, BS 2, Holly L. Hedrick, MD 6, 7, William Peranteau, MD 6, 7, Ian D. Krantz, MD 2, 4, ⁎ 
1 Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2 Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA
3 Division of Neonatology, The Children's Hospital of Philadelphia, Philadelphia, PA
4 Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
5 Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA
6 Center for Fetal Research, The Children's Hospital of Philadelphia, Philadelphia, PA
7 Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
∗Reprint requests: Ian D. Krantz, MD, The Children's Hospital of Philadelphia, 1007A Abramson Research Center, 3615 Civic Center Boulevard, Philadelphia, PA 19104-4318.The Children's Hospital of Philadelphia1007A Abramson Research Center3615 Civic Center BoulevardPhiladelphiaPA19104-4318
Keywords : congenital diaphragmatic hernia, CDH, diaphragm development, CDH genetics, isolated CDH, complex CDH, syndromic CDH, STAG2, MED14, trisomy 12p
Abbreviations : CDH, CdLS, CNV, DHREAMS, DOL, ES, MRI, PKS, VUS
Plan
| Funded by a grant from the Fore Hadley Foundation and the Agnew Surgical Society. I.K. serves on the Editorial Board of The Journal of Pediatrics. The authors declare no conflicts of interest. |
© 2022
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Vol 246
P. 251 - juillet 2022 Retour au numéro
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