Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.
作者信息
Zweers Manon C, Bristow Jim, Steijlen Peter M, Dean Willow B, Hamel Ben C, Otero Marisol, Kucharekova Martina, Boezeman Jan B, Schalkwijk Joost
出版信息
Am J Hum Genet. 2003 Jul;73(1):214-7. doi: 10.1086/376564.
Abstract
摘要
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本文引用的文献
1
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Nat Genet. 2002 Apr;30(4):421-5. doi: 10.1038/ng850. Epub 2002 Mar 4.
2
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
N Engl J Med. 2001 Oct 18;345(16):1167-75. doi: 10.1056/NEJMoa002939.
3
The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS).
J Rheumatol. 2000 Jul;27(7):1777-9.
4
Joint hypermobility and genetic collagen disorders: are they related?
Arch Dis Child. 1999 Feb;80(2):188-91. doi: 10.1136/adc.80.2.188.
5
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
Am J Med Genet. 1998 Apr 28;77(1):31-7. doi: 10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o.
6
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
Nat Genet. 1997 Sep;17(1):104-8. doi: 10.1038/ng0997-104.
7
Hypermobility in two Dutch school populations.
Eur J Obstet Gynecol Reprod Biol. 1997 Jun;73(2):189-92. doi: 10.1016/s0301-2115(97)02745-0.
8
Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.
J Invest Dermatol. 1994 Nov;103(5 Suppl):47S-52S. doi: 10.1111/1523-1747.ep12399038.
9
A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.
Hum Mol Genet. 1994 Sep;3(9):1617-20. doi: 10.1093/hmg/3.9.1617.
10
Articular mobility in an African population.
Ann Rheum Dis. 1973 Sep;32(5):413-8. doi: 10.1136/ard.32.5.413.
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