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Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2019 May; Vol. 179 (5), pp. 842-845. Date of Electronic Publication: 2019 Mar 03. - Publication Year :
- 2019
-
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.<br /> (© 2019 Wiley Periodicals, Inc.)
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 179
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 30828993
- Full Text :
- https://doi.org/10.1002/ajmg.a.61096