Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Kendell German Gail H. Deutsch Amanda S. Freed Katrina M. Dipple Shilpi Chabra James T. Bennett

Affiliation:	1. https://orcid.org/0000-0002-0046-621X;2. Department of Pediatrics, University of Washington, Seattle, Washington;3. Kendell German, Department of Pediatrics, University of Washington, Box 356320, RR542 HSB, Seattle, WA 98195‐6320.;4. Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington;5. Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington;6. Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington;7. Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, Washington;8. Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington

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.

Keywords:	acinar dysplasia exome sequencing neonatal respiratory failure TBX