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Year | Number of Results |
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1996 | 1 |
1999 | 1 |
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Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).
Am J Med Genet. 1999 Nov 26;87(3):201-2. doi: 10.1002/(sici)1096-8628(19991126)87:3<201::aid-ajmg1>3.0.co;2-h.
Am J Med Genet. 1999.
PMID: 10564870
Review.
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
Chitayat D, Babul R, Silver MM, Jay V, Teshima IE, Babyn P, Becker LE.
Chitayat D, et al.
Am J Med Genet. 1996 Jan 2;61(1):45-8. doi: 10.1002/(SICI)1096-8628(19960102)61:1<45::AID-AJMG9>3.0.CO;2-W.
Am J Med Genet. 1996.
PMID: 8741917
Review.
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Mutations in SOX2 cause anophthalmia.
Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR.
Fantes J, et al.
Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120. Epub 2003 Mar 3.
Nat Genet. 2003.
PMID: 12612584
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Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.
Male A, Davies A, Bergbaum A, Keeling J, FitzPatrick D, Mackie Ogilvie C, Berg J.
Male A, et al.
Eur J Hum Genet. 2002 Dec;10(12):807-12. doi: 10.1038/sj.ejhg.5200890.
Eur J Hum Genet. 2002.
PMID: 12461687
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Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).
Kurbasic M, Jones FV, Cook LN.
Kurbasic M, et al.
Ophthalmic Genet. 2000 Dec;21(4):239-42.
Ophthalmic Genet. 2000.
PMID: 11135495
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