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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; May2019, Vol. 179 Issue 5, p842-845, 4p
- 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 15524825
- Volume :
- 179
- Issue :
- 5
- Database :
- Complementary Index
- Journal :
- American Journal of Medical Genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 135912370
- Full Text :
- https://doi.org/10.1002/ajmg.a.61096