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Update on a previously reported male with a FLNA missense mutation.

作者信息

Walsh Maie, Hebbard Geoffrey, Trainer Alison

机构信息

Adult Genetic Medicine, Royal Melbourne Hospital, Melbourne, VIC, Australia.

Department of Gastroenterology and Hepatology, Royal Melbourne Hospital, Melbourne, VIC, Australia.

出版信息

Eur J Hum Genet. 2017 Aug;25(8):905-906. doi: 10.1038/ejhg.2016.156. Epub 2017 Jan 4.

Abstract
摘要

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本文引用的文献

1
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
Eur J Hum Genet. 2016 Mar;24(3):408-14. doi: 10.1038/ejhg.2015.119. Epub 2015 Jun 10.
2
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19.
3
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Eur J Hum Genet. 2013 May;21(5):494-502. doi: 10.1038/ejhg.2012.209. Epub 2012 Oct 3.
5
Filamin A mutation is one cause of FG syndrome.
Am J Med Genet A. 2007 Aug 15;143A(16):1876-9. doi: 10.1002/ajmg.a.31751.
6
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Brain. 2006 Jul;129(Pt 7):1892-906. doi: 10.1093/brain/awl125. Epub 2006 May 9.
8
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Neurology. 2004 Jul 13;63(1):51-6. doi: 10.1212/01.wnl.0000132818.84827.4d.

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