Article
Structural and numerical changes of chromosome X in patients with esophageal atresia.
European journal of human genetics : EJHG - 1 Sept 2014
Brosens Erwin, de Jong Elisabeth M, Barakat Tahsin Stefan, Eussen Bert H, D'haene Barbara, De Baere Elfride, Verdin Hannah, Poddighe Pino J, Galjaard Robert-Jan, Gribnau Joost, Brooks Alice S, Tibboel Dick, de Klein Annelies
Abstract excerpt
Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a relatively common birth defect often associated with additional congenital anomalies such as vertebral, anal, cardiovascular, renal and limb defects, the so-called VACTERL association. Yet, little is known about the causal genetic factors. Rare case reports of gastrointestinal anomalies in children with triple X syndrome prompted us to...
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