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Volume 26 Issue 4
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Ophthalmic Genetics
, Volume
26
Issue 4 2005
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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Publisher:
Informa Healthcare
Issue Purchase: US$221.38 -
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Editorial
The Mouse's Eye and
Mfrp
: Not Quite Human
Olof H. Sundin
Pages 153 – 155
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Research Report
Mutation Screen of the Membrane-Type Frizzled-Related Protein (
MFRP
) Gene in Patients with Inherited Retinal Degenerations
Gayle J. T. Pauer; Quansheng Xi; Kang Zhang; Elias I. Traboulsi; Stephanie A. Hagstrom
Pages 157 – 161
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Unilateral Isolated Microphthalmia Inherited as an Autosomal Recessive Trait
Monika Fleckenstein; Irene H. Maumenee
Pages 163 – 168
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Mutation Report
Meesmann Corneal Dystrophy (MECD): Report of 2 Families and a Novel Mutation in the Cornea Specific Keratin 12 (
KRT12
) Gene
Olivia Nichini; Violaine d'Allèves Manzi; Francis L. Munier; Daniel F. Schorderet
Pages 169 – 173
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Mini-review
RPGRIP1 is Mutated in Leber Congenital Amaurosis: A Mini-Review
Robert K. Koenekoop
Pages 175 – 179
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Case Report
Coats-Type Retinal Telangiectasia in Case of Kabuki Make-Up Syndrome (Niikawa-Kuroki Syndrome)
M. Anandan; Neroli J. Porter; Andrea H. Nemeth; Edward Blair; Susan M. Downes
Pages 181 – 183
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Bilateral Complete Isolated Cryptophthalmos: A Case Report
Deena Egier; Robert Orton; Larry Allen; Victoria Mok Siu
Pages 185 – 189
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Letter To The Editor
Letter to the Editor: The Relative Contribution of the X Chromosome to Ocular Phenotypes
A. W. Hewitt; K. P. Burdon
Pages 191 – 193
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Errata
Erratum
Page 195
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