| 1 | BSVD, COL4A1
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| Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
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| Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.
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| Clin Genet 86(5):475-81. doi: 10.1111/cge.12379. Epub 2014 Apr 12.
2014
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| 2 | BSVD, COL4A1
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| Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
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| Rødahl E, Knappskog PM, Majewski J, Johansson S, Telstad W, Kråkenes J, Boman H.
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| Am J Ophthalmol 155(5):946-53. doi: 10.1016/j.ajo.2012.11.028. Epub 2013 Feb 6.
2013
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| 3 | BSVD, COL4A1
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| Ophthalmological features associated with COL4A1 mutations.
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| Coupry I, Sibon I, Mortemousque B, Rouanet F, Mine M, Goizet C.
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| Arch Ophthalmol 128(4):483-9. doi: 10.1001/archophthalmol.2010.42.
2010
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| 4 | BSVD, COL4A1
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| COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
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| Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C.
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| Ann Neurol 62(2):177-84.
2007
|