Prenatally Diagnosed 17q12 Microdeletion Syndrome with a Novel Association with Congenital Diaphragmatic Hernia

2012 ◽  
Vol 31 (2) ◽  
pp. 129-133 ◽  
Author(s):  
Nancy W. Hendrix ◽  
Michele Clemens ◽  
Timothy P. Canavan ◽  
Urvashi Surti ◽  
Aleksandar Rajkovic
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Microdeletion Syndrome ◽  
Novel Association

scholarly journals Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

2018 ◽  
Vol 6 (4) ◽  
pp. 592-595 ◽  
Author(s):  
Rita Genesio ◽  
Giuseppe Maria Maruotti ◽  
Gabriele Saccone ◽  
Angela Mormile ◽  
Anna Conti ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Novel Association

Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases

2015 ◽  
Vol 35 (12) ◽  
pp. 1265-1267 ◽  
Author(s):  
Patrick Yap ◽  
George McGillivray ◽  
Fiona Norris ◽  
Joanne M. Said ◽  
Louise Kornman ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Microdeletion Syndrome

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

2009 ◽  
Vol 52 (2-3) ◽  
pp. 153-156 ◽  
Author(s):  
Hilde Van Esch ◽  
Liesbeth Backx ◽  
Elly Pijkels ◽  
Jean-Pierre Fryns
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Microdeletion Syndrome

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

2014 ◽  
Vol 167 (1) ◽  
pp. 250-253 ◽  
Author(s):  
Carole Goumy ◽  
Fanny Laffargue ◽  
Eléonore Eymard-Pierre ◽  
Stéphen Kemeny ◽  
Mathilde Gay-Bellile ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Microdeletion Syndrome

Right-Sided Congenital Diaphragmatic Hernia and Agenesis of the Lung - Diagnostic Pitfalls

2002 ◽  
Vol 41 (5) ◽  
pp. 441-447
Author(s):  
Tröbs R.-B. ◽  
Wild L. ◽  
Klöppel R. ◽  
Bennek J.
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Diagnostic Pitfalls
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