Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease

Richard J. Hesse; Joshua Groetsch; Alan Burshell

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Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease

Richard J. Hesse, Joshua Groetsch and Alan Burshell

Ochsner Journal March 2010, 10 (1) 13-15;

Richard J. Hesse

*Department of Ophthalmology, Ochsner Clinic Foundation, New Orleans, LA

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For correspondence: rhesse@ochsner.org

Joshua Groetsch

‡Department of Endocrinology, Ochsner Clinic Foundation, New Orleans, LA

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Alan Burshell

†Leonard J. Chabert Hospital, Houma, LA

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Ocular Findings Noted During Clinical Examinations of 28 Relatives of the Consultand
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Spearman Rank Correlation Coefficients Among 24 Relatives of the Consultand With the R39G Mutation^a

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Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease

Richard J. Hesse, Joshua Groetsch, Alan Burshell

Ochsner Journal Mar 2010, 10 (1) 13-15;

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Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease

Richard J. Hesse, Joshua Groetsch, Alan Burshell

Ochsner Journal Mar 2010, 10 (1) 13-15;

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Keywords

ABCC6 gene
angioid streaks
choroidal neovascular membranes
drusen
peau d'orange appearance
peripapillary atrophy
phenotypic expression
pseudoxanthoma elasticum

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