Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing. Issue 5 (3rd March 2019)

• Record Type: Journal Article
• Authors: German, Kendell; Deutsch, Gail H.; Freed, Amanda S.; Dipple, Katrina M.; Chabra, Shilpi; Bennett, James T.
• Is Part Of: American journal of medical genetics. Volume 179:Issue 5(2019)
• Page Start: 842
• Page End: 845
• Publication Date: 2019-03-03
• Subjects: acinar dysplasia -- exome sequencing -- neonatal respiratory failure -- TBX; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61096
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : We describe a neonate with severe respiratory failure due to acinar dysplasia found by rapid exome sequencing (rES), to have a deletion containing the TBX4 gene. rES can affect patient management in the intensive care unit and should be considered in concert with lung biopsy in neonates with undifferentiated respiratory failure.