Identification of a deletion containing  TBX4  in a neonate with acinar dysplasia by rapid exome sequencing | Zendy

German Kendell | Zendy; Deutsch Gail H. | Zendy; Freed Amanda S. | Zendy; Dipple Katrina M. | Zendy; Chabra Shilpi | Zendy; Bennett James T. | Zendy

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Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing

Author(s) -

German Kendell,

Deutsch Gail H.,

Freed Amanda S.,

Dipple Katrina M.,

Chabra Shilpi,

Bennett James T.

Publication year - 2019

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.61096

Subject(s) - exome sequencing , respiratory failure , neonatal intensive care unit , bronchopulmonary dysplasia , exome , biopsy , medicine , pathology , biology , gene , genetics , phenotype , pediatrics , gestational age , pregnancy

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.

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