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Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.
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本文引用的文献
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Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.
Am J Med Genet A. 2013 May;161A(5):1148-53. doi: 10.1002/ajmg.a.35827. Epub 2013 Mar 26.
2
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity.
J Am Coll Cardiol. 2013 Feb 19;61(7):783. doi: 10.1016/j.jacc.2012.06.070.
3
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61.
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Giant aortic aneurysm in an infant with arterial tortuosity syndrome.
Ann Thorac Surg. 2012 Aug;94(2):e51. doi: 10.1016/j.athoracsur.2012.02.046.
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Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
Am J Med Genet A. 2012 May;158A(5):1164-9. doi: 10.1002/ajmg.a.35266. Epub 2012 Apr 9.
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Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Eur J Hum Genet. 2010 Aug;18(8):895-901. doi: 10.1038/ejhg.2010.45. Epub 2010 Apr 14.
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Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.
Clin Genet. 2008 Aug;74(2):189-93. doi: 10.1111/j.1399-0004.2008.01049.x. Epub 2008 Jun 28.
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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623.
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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19.
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