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Ophthalmic Genetics, Volume 29 Issue 1 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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Research Article
Developmental Basis of Nanophthalmos: MFRP Is Required for both Prenatal Ocular Growth and Postnatal Emmetropization
Olof H. Sundin;  Sharola Dharmaraj;  Imran A. Bhutto;  Takuya Hasegawa;  D. Scott McLeod;  Carol A. Merges;  Eduardo D. Silval;  Irene H. Maumenee; Gerard A. Lutty
Pages 1 – 9
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Association of VEGF Gene Polymorphisms with Diabetic Retinopathy in a South Indian Cohort
Satagopan Uthra;  Rajiv Raman;  Bickol N. Mukesh;  Samuel A. Rajkumar;  Kumari R. Padmaja;  Pradeep G. Paul;  Praveena Lakshmipathy;  Perumal Gnanamoorthy;  Tarun Sharma;  Catherine A. McCarty; Govindasamy Kumaramanickavel
Pages 11 – 15
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Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy
Suma P. Shankar;  John H. Fingert;  Valerio Carelli;  Maria L. Valentino;  Terri M. King;  Stephen P. Daiger;  Solange R. Salomao;  Adriana Berezovsky;  Rubens Belfort Jr.;  Terri A. Braun;  Val C. Sheffield;  Alfredo A. Sadun; Edwin M. Stone
Pages 17 – 24
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Congential Fibrosis of the Extraocular Muscles Type I (CFEOM1) on the Arabian Peninsula
Arif O. Khan;  Dania S. Khalil; Nada A. Al-Tassan
Pages 25 – 28
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Case Report
Novel RDH5 Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa
Chunxia Wang;  Nobuo Nakanishi;  Kentaro Ohishi;  Akiko Hikoya;  Kenro Koide;  Miho Sato;  Makoto Nakamura;  Yoshihiro Hotta; Shinsei Minoshima
Pages 29 – 32
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Asymptomatic Renal Cell Carcinoma as a Finding of Bardet Biedl Syndrome
Renzo A. Zaldivar;  Matthew D. Neale;  William E. Evans; Jose S. Pulido
Pages 33 – 35
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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)
Andreas Tzschach;  Christina Kelbova;  Sabine Weidensee;  Hartmut Peters;  Hans-Hilger Ropers;  Reinhard Ullmann;  Fikret Erdogan;  Jan Jurkatis;  Corinna Menzel;  Vera Kalscheuer; Stephanie Demuth
Pages 37 – 40
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Mutation Report
Mutation in the SLC4A11 Gene Associated with Autosomal Recessive Congenital Hereditary Endothelial Dystrophy in a Large Saudi Family
Shaival S. Shah;  Ali Al-Rajhi;  James D. Brandt;  Mark J. Mannis;  Ben Roos;  Val C. Sheffield;  Nasreen A. Syed;  Edwin M. Stone; John H. Fingert
Pages 41 – 45
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