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0022586801
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Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23-q25
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0023634915
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Interstitial deletion of the long arm ofchromosome 3: Case report, review, and definition ofa phenotype
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0029029527
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A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
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0029864808
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A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23
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Amati P, Gasparini P, Zlotogora J, Zelante L, Chomel JC, Kitzis A, Kaplan J, Bonneau D. 1996. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Human Genet 58:1089-1092.
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7
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0035131812
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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
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Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. 2001. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 27:159-166.
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8
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0020966665
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Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies
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10
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0027762162
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De novo interstitial deletion of the long arm of chromosome 3: 46, XX, del (3)(q25.1q26.1)
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Robin NH, Magnusson M, McDonald-McGinn D, Zackai EH, Spinner NB. 1993. De novo interstitial deletion of the long arm of chromosome 3:46, XX, del (3)(q25.1q26.1). Clin Genet 44:335-337.
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12
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0024412008
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Blepharophimosis plus ovarian failure: A likely candidate for a contiguous gene syndrome
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Smith, A.1
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0018418139
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Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea
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Townes PL, Muechler EK. 1979. Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. Arch Ophthalmol 97:1664-1666.
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Townes, P.L.1
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14
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0019497404
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Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring
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Williamson RA, Donlan MA, Dolan CR, Thurline HC, Harrison MT, Hall JG. 1981. Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring. Am J Med Genet 9:105-111.
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15
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0020508397
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The blepharophimosis ptosis and epicanthus inversus syndrome: Delineation of two types
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Zlotogora J, Sagi M, Cohen T. 1983. The blepharophimosis ptosis and epicanthus inversus syndrome: Delineation of two types. Am J Hum Genet 35:1020-1027.
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