Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 50, Issue 3, Pages 163-175Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2006.12.004
Keywords
esophageal atresia; tracheoesophageal fistula; chromosomes; human
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Oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) are severe congenital anomalies of which the aetiology is largely unknown. Several chromosomal anomalies have been described in patients presenting with these anatomical malformations, but until now none of these has led to the identification of a single aetiological factor. This paper reviews the chromosomal abnormalities reported in cases of OA/ TOF and serves as a starting point to-identify chromosomal regions harbouring genes involved in the aetiology of OA/TOF (c) 2007 Elsevier Masson SAS. All rights,reserved.
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