| 1 | MCOPS5, OTX2
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| A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency.
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| Lonero A, Delvecchio M, Primignani P, Caputo R, Bargiacchi S, Penco S, Mauri L, Andreucci E, Faienza MF, Cavallo L.
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| J Pediatr Endocrinol Metab Pediatr Endocrinol Metab. 2016 Mar 12. pii: /j/jpem.ahead-of-print/jpem-2015-0425/jpem-2015-0425.xml. doi: 10.1515/jpem-2015-042 2016
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| 2 | MCOPS5, OTX2
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| OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
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| Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium, Héon E.
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| J Med Genet 51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7.
2014
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| 3 | MCOP2, MCOPS5, OTX2
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| OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
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| Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV.
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| Clin Genet 79(2):158-68. doi: 10.1111/j.1399-0004.2010.01450.x.
2011
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| 4 | MCOPS5, OTX2
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| A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
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| Ashkenazi-Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, Ogata T, Phillip M, Gat-Yablonski G.
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| Hum Genet 127(6):721-9. Epub 2010 Apr 16.PMID: 20396904 2010
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| 5 | MCOPS5, OTX2
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| OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
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| Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K.
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| J Clin Endocrinol Metab 94(1):314-9. Epub 2008 Oct 14.
2009
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| 6 | MCOPS5, OTX2
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| Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
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| Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.
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| Hum Mutat 29(11):E278-83.
2008
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| 7 | MCOP2, MCOPS5, OTX2
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| Heterozygous mutations of OTX2 cause severe ocular malformations.
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| Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.
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| Am J Hum Genet 76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334. 2005
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| 8 | MCOPS5
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| A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
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| Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT.
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| Br J Ophthalmol 87(2):197-202. 2003
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