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Ophthalmic Genetics, Volume 27 Issue 4 2006

Ophthalmic Genetics is moving!
Official Journal of the International Society for Genetic Eye Disease and Retinoblastoma
ISSN: 1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency: 4 issues per year
Subjects: Genetics; Ophthalmology;
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Editorial
Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis
Elias I. Traboulsi;  Robert Koenekoop; Edwin M. Stone
Pages 113 – 115
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Review Article
The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease
Rafal Farjo; Muna I. Naash
Pages 117 – 122
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From Vivarium to Bedside: Lessons Learned from Animal Models
Ewa Budzynski;  Yongsuk Lee;  Kenji Sakamoto;  Juergen K. Naggert; Patsy M. Nishina
Pages 123 – 137
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Mutation Report
Late-Onset Central Areolar Choroidal Dystrophy Caused by a Heterozygous Frame-Shift Mutation Affecting Codon 307 of the Peripherin/RDS Gene
Claudia N. Keilhauer;  Thomas Meigen;  Heidi Stöhr; Bernhard H. F. Weber
Pages 139 – 144
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Ocular Findings in Gillespie-Like Syndrome: Association with a New PAX6 Mutation
Benjamin H. Ticho;  Clair Hilchie-Schmidt;  Robert T. Egel;  Elias I. Traboulsi;  Rachel J. Howarth; David Robinson
Pages 145 – 149
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Mutation Screen of the Cone-Specific Gene, CLUL1, in 376 Patients with Age-Related Macular Degeneration
Gwen M. Sturgill;  Gayle J. T. Pauer;  Elisa Bala;  Ellen Simpson;  Stacia S. Yaniglos;  John W. Crabb;  Joe G. Hollyfield;  Hilel Lewis;  Neal S. Peachey; Stephanie A. Hagstrom
Pages 151 – 155
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A Splice-Site Mutation in CCM1/KRIT1 is Associated with Retinal and Cerebral Cavernous Hemangioma
Anna S. Kitzmann;  Jose S. Pulido;  Matthew J. Ferber;  W. Edward Highsmith; Dusica Babovic-Vuksanovic
Pages 157 – 159
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Case Report
Juvenile Cataracts in a Patient with Histidinuria: Case Report
Guido Santacana-Laffitte;  Natalio J. Izquierdo;  José R. Lladó; Irene H. Maumenee
Pages 161 – 163
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Ependymal Tissue in Microphthalmia with Cyst
Birgit Lorenz;  Heike M. Elflein; Ferdinand Hofstädter
Pages 165 – 168
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