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Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

✍ Scribed by Liesbeth Backx; Jean-Pierre Fryns; Carlo Marcelis; Koen Devriendt; Joris Vermeesch; Hilde Van Esch


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
189 KB
Volume
152A
Category
Article
ISSN
1552-4825

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## Abstract ## BACKGROUND: Esophageal atresia (EA) is a life‐threatening congenital condition whose etiology and pathogenesis are still poorly understood. An increasing trend of this pathology in some Italian regions suggests a possible interaction between xenobiotics and genes involved in detoxif