Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
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ABSTRACT:
SUBMITTER: German K
PROVIDER: S-EPMC7738195 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Publications
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
German Kendell K Deutsch Gail H GH Freed Amanda S AS Dipple Katrina M KM Chabra Shilpi S Bennett James T JT
American journal of medical genetics. Part A 20190303 5
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. ...[more]
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