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Congenital tracheal stenosis is a rare life‐threatening disorder caused by narrow O‐shaped tracheal ring without smooth muscle. Its underlying genetic cause has not been elucidated. We performed whole exome sequencing in a patient with congenital tracheal stenosis and congenital heart defect, and identified a de novo pathogenic TBX5 variant (NM_181486.4:c.680T>C, p.(Ile227Thr)). The Ile227Thr‐TBX5...
Objectives Whether to perform surgical or conservative treatment for congenital tracheal stenosis (CTS) is controversial. Thus, the computed tomography (CT) criteria for conservative treatment of CTS were investigated. Methods From 2005 to 2017, 28 CTS cases were included. The operative cases and preoperative death cases constituted the required intervention group (group I), and the non-operative...
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