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Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.

作者信息

Han MeiLan K, Tyburczy Magdalena E, Darling Thomas N, Kazerooni Ella A, Myers Jeffrey L, McCormack Francis X, Moss Joel, Kwiatkowski David J

机构信息

1 University of Michigan Ann Arbor, Michigan.

2 Brigham and Women's Hospital Boston, Massachusetts.

出版信息

Ann Am Thorac Soc. 2017 Jul;14(7):1227-1229. doi: 10.1513/AnnalsATS.201703-229LE.

Abstract
摘要

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本文引用的文献

1
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov.
2
Lymphangioleiomyomatosis screening in women with tuberous sclerosis.
Chest. 2013 Aug;144(2):578-585. doi: 10.1378/chest.12-2813.
3
Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis.
QJM. 2011 Nov;104(11):971-9. doi: 10.1093/qjmed/hcr116. Epub 2011 Jul 15.
4
Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex.
Clin Radiol. 2011 Jul;66(7):625-8. doi: 10.1016/j.crad.2011.02.009. Epub 2011 Apr 2.
5
Diagnostic potential of serum VEGF-D for lymphangioleiomyomatosis.
N Engl J Med. 2008 Jan 10;358(2):199-200. doi: 10.1056/NEJMc0707517.
6
Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex.
Am J Respir Crit Care Med. 2007 Jul 1;176(1):96-8. doi: 10.1164/rccm.200610-1408CR. Epub 2007 Apr 12.
7
Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features.
Radiology. 2007 Jan;242(1):277-85. doi: 10.1148/radiol.2421051767. Epub 2006 Nov 14.
9
Pulmonary lymphangioleiomyomatosis and multiple hepatic angiomyolipomas in a man.
Pathol Int. 2003 Apr;53(4):231-5. doi: 10.1046/j.1320-5463.2003.01460.x.
10
Pulmonary lymphangioleiomyomatosis in a man.
Am J Respir Crit Care Med. 2000 Aug;162(2 Pt 1):749-52. doi: 10.1164/ajrccm.162.2.9911006.

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