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Ophthalmic Genetics, Volume 29 Issue 2 2008

Ophthalmic Genetics is moving!
ISSN: 1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency: 4 issues per year
Subjects: Genetics; Ophthalmology;
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REVIEW
Update on the Morning Glory Disc Anomaly
Brian J. Lee; Elias I. Traboulsi
Pages 47 – 52
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RESEARCH ARTICLE
The D144E Substitution in the VSX1 Gene: A Non-pathogenic Variant or a Disease Causing Mutation?
Pras Eran;  Abu Almogit;  Zadok David;  Haike Reznik Wolf;  Garzozi Hana;  Barkana Yaniv;  Pras Elon; Avni Isaac
Pages 53 – 59
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Corneal Opacities in the Hallermann-Streiff Syndrome
Françoise M. Roulez;  Josée Schuil; Françoise M. Meire
Pages 61 – 66
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MUTATION REPORT
Heterozygous FOXC1 Mutation (M161K) Associated with Congenital Glaucoma and Aniridia in an Infant and a Milder Phenotype in Her Mother
Arif O. Khan;  Mohammad A. Aldahmesh; Abdullah Al-Amri
Pages 67 – 71
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Screening of the RPE65 Gene in the Asian Indian Patients with Leber Congenital Amaurosis
Gandra Mamatha;  Sundaramurthy Srilekha;  Swaminathan Meenakshi; Govindasamy Kumaramanickavel
Pages 73 – 78
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CASE REPORT
New Recognized Ophthalmic Morphologic Anomalies in CHARGE Syndrome Caused by the R2319C Mutation in the CHD7 Gene
Heinrich M. Holak;  Jürgen Kohlhase;  Sophie A. Holak; Nikolai H. Holak
Pages 79 – 84
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A Phenotypic Variant of Knobloch Syndrome
Theresa Anne Williams;  Graham R. Kirkby;  Denise Williams; John R. Ainsworth
Pages 85 – 86
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LETTER TO THE EDITOR
Aicardi Syndrome in Monozygotic Twins
Mauricio E. Pons; Charles A. Garcia
Pages 87 – 88
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