| 1 | CTPP2, PITX3
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| A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.
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| Fan Q, Li D, Cai L, Qiu X, Zhao Z, Wu J, Yang J, Lu Y.
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| BMC Med Genet 20(1):42. doi: 10.1186/s12881-019-0782-2.
2019
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| 2 | PITX3, CTPP2
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| Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
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| Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.
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| Invest Ophthalmol Vis Sci 47(4):1274-80. 2006
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| 3 | PITX3, CTPP2
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| Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene.
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| Addison PK, Berry V, Ionides AC, Francis PJ, Bhattacharya SS, Moore AT.
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| Br J Ophthalmol 89(2):138-41. 2005
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