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Primary ciliary dyskinesia: keep it on your radar.

作者信息

Rosenfeld Margaret, Ostrowski Lawrence E, Zariwala Maimoona A

机构信息

Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.

Department of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.

出版信息

Thorax. 2018 Feb;73(2):101-102. doi: 10.1136/thoraxjnl-2017-210776. Epub 2017 Nov 13.

Abstract
摘要

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Variant Interpretation: Functional Assays to the Rescue.
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3
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7
Primary Ciliary Dyskinesia.
Clin Chest Med. 2016 Sep;37(3):449-61. doi: 10.1016/j.ccm.2016.04.008. Epub 2016 Jun 30.
8
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022.
10
Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.
Ann Am Thorac Soc. 2016 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC.

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