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2001 | 1 |
2014 | 2 |
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Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
Am J Hum Genet. 2001 Nov;69(5):989-1001. doi: 10.1086/324123. Epub 2001 Sep 27.
Am J Hum Genet. 2001.
PMID: 11577371
Free PMC article.
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.
Shalhub S, Black JH 3rd, Cecchi AC, Xu Z, Griswold BF, Safi HJ, Milewicz DM, McDonnell NB.
Shalhub S, et al.
J Vasc Surg. 2014 Jul;60(1):160-9. doi: 10.1016/j.jvs.2014.01.070. Epub 2014 Mar 18.
J Vasc Surg. 2014.
PMID: 24650746
Free PMC article.
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Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH.
Pepin MG, et al.
Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12.
Genet Med. 2014.
PMID: 24922459
Free article.
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