2007-05-01
Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula
Publication
Publication
European Journal of Medical Genetics , Volume 50 - Issue 3 p. 163- 175
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.
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doi.org/10.1016/j.ejmg.2006.12.004, hdl.handle.net/1765/37122 | |
European Journal of Medical Genetics | |
Organisation | Erasmus MC: University Medical Center Rotterdam |
Felix, J., Tibboel, D., & de Klein, A. (2007). Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. European Journal of Medical Genetics (Vol. 50, pp. 163–175). doi:10.1016/j.ejmg.2006.12.004 |