Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

By Sotirova Vihra N.   Rezaie Tayebeh   Khoshsorour M.R.   Sarfarazi Mansoor  

Ophthalmic Genetics, Vol. 21, Iss. 1, 2000-03 ,pp. : 25-28

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Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation

By Xiao Xueshan   Li Shiqiang   Zhang Qingjiong  

Ophthalmic Genetics, Vol. 33, Iss. 2, 2012-06 ,pp. : 119-121

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Identification of the p. R116H mutation in a Chinese Family with Novel Variable Cataract Phenotype: Evidence for a Mutational Hot Spot in αA-Crystallin Gene

By Wang Binbin   Wang Kai Jie   Zhu Si Quan   Wang Jing   Ma Xu  

Ophthalmic Genetics, Vol. 33, Iss. 3, 2012-09 ,pp. : 134-138

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A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

By Brooks Brian P.   Moroi Sayoko E.   Downs Catherine A.   Wiltse Shannon   Othman Mohammad I.   Semina Elena V.   Richards Julia E.  

Ophthalmic Genetics, Vol. 25, Iss. 1, 2004-03 ,pp. : 57-62

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Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa

By Zhao Kanxing   Xiong Shihong   Wang Li   Wang Lejin   Cui Yun   Wang Qing  

Ophthalmic Genetics, Vol. 22, Iss. 3, 2001-09 ,pp. : 155-162

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