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Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.

作者信息

Li Dong, Sheppard Sarah E, Peroutka Christina, Barnes Caitlin, Reid Janet R, Smith Christopher L, Dori Yoav, Hakonarson Hakon

机构信息

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Division of Genetics, University of Virginia, Charlottesville, Virginia, USA.

出版信息

Clin Genet. 2021 May;99(5):742-743. doi: 10.1111/cge.13915. Epub 2021 Jan 12.

Abstract
摘要

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本文引用的文献

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Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
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