Citations for
1COL3A1, FAN
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G.
Eur J Hum Genet 18(12):1315-1321. Epub 2010 Jul 21.PMID: 20648054 2010
2COL3A1, FAN
A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.
Lee ST, Kim JA, Jang SY, Kim DK, Kim JW, Ki CS.
Heart Vessels 23(2):144-8. Epub 2008 Apr 4. 2008
3ACR, COL3A1, EDS4A, FAN
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.
Pope FM, et al.
Br J Dermatol 135 : 163-181. 1996
4FAN, COL3A1
Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.
Tromp G, et al.
J Clin Invest 91 : 2539-2545. 1993
5FAN
Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.
Kuivaniemi H, et al.
J Clin Invest 88 : 1441-1444. 1991
6FAN, EDS4A
Inheritance of an RNA splicing mutation (G+I IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability : phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
Kontusaari S, et al.
Am J Hum Genet 47 : 112-120. 1990
7FAN
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
Kontusaari S, et al.
J Clin Invest 86 : 1465-1473. 1990
8COL3A1, FAN
A single base mutation in the type III procollagen gene (COL3A1) on chromosome 2q that causes familial aneurysms.
Kontusaari S, et al.
(HGM10) Cytogenet Cell Genet 51 : 1024-1025. 1989
9FAN
Collagen type III deficiency in patients with rupture of intracranial saccular aneurysms.
Ostergaard JR, et al.
J Neurosurg 67 : 690-696. 1987
10FAN
Les cas familiaux d'anŽvrysmes intra-cr‰niens.
Thierry A, et al.
Neurochirurgie 18 : 267-276. 1972