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Correction: Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.更正：在诊断过程早期进行基因组测序会有不同吗？一项关于临床结果和成本效益的随访研究。
Genet Med. 2019 Feb;21(2):516. doi: 10.1038/s41436-018-0078-5.
2
National trends in neonatal extracorporeal membrane oxygenation in the United States.美国新生儿体外膜肺氧合的全国趋势。
J Perinatol. 2018 Aug;38(8):1106-1113. doi: 10.1038/s41372-018-0129-4. Epub 2018 May 24.
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Meeting the challenges of implementing rapid genomic testing in acute pediatric care.应对急性儿科护理中实施快速基因组检测的挑战。
Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15.
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Regulatory integration of Hox factor activity with T-box factors in limb development.Hox 因子活性与 T 盒因子在肢体发育中的调控整合。
Development. 2018 Mar 22;145(6):dev159830. doi: 10.1242/dev.159830.
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Small patella syndrome: New clinical and molecular insights into a consistent phenotype.小髌骨综合征：对一种一致表型的新临床和分子见解。
Clin Genet. 2017 Dec;92(6):676-678. doi: 10.1111/cge.13103.
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Interstitial lung disease in newborns.新生儿间质性肺疾病
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Costs of Diagnostic Assessment for Lung Cancer: A Medicare Claims Analysis.肺癌诊断评估的成本：一项医疗保险索赔分析。
Clin Lung Cancer. 2017 Jan;18(1):e27-e34. doi: 10.1016/j.cllc.2016.07.006. Epub 2016 Jul 21.
9
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.TBX4突变的表型扩展至包括肺腺泡发育异常。
Am J Med Genet A. 2016 Sep;170(9):2440-4. doi: 10.1002/ajmg.a.37822. Epub 2016 Jul 4.
10
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.孟德尔表型的遗传基础：发现、挑战与机遇
Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9.

利用快速外显子组测序鉴定一名新生儿肺泡发育不良中含 TBX4 的缺失。

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

机构信息

Department of Pediatrics, University of Washington, Seattle, Washington.

Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington.

出版信息

Am J Med Genet A. 2019 May;179(5):842-845. doi: 10.1002/ajmg.a.61096. Epub 2019 Mar 3.

DOI:10.1002/ajmg.a.61096
PMID:30828993
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7738195/
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.

摘要

我们描述了一例因快速外显子组测序（rES）发现的肺泡发育不良导致严重呼吸衰竭的新生儿，该婴儿携带 TBX4 基因缺失。rES 可影响重症监护病房的患者管理，对于未分化呼吸衰竭的新生儿，应与肺活检一起考虑 rES。