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Start Over Author "Lotery, AJ" Language romanian; moldavian; moldovan
1 results on '"Lotery, AJ"'

1. [Familial choroideremia--case report].

Author

Stinghe A and Lotery AJ

Subjects
Child, Fathers, Female, Fundus Oculi, Genetic Markers genetics, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Mutation, Pedigree, Visual Field Tests, Adaptor Proteins, Signal Transducing genetics, Choroideremia genetics, GTP Phosphohydrolase Activators
Abstract

We present a case of familial choroideremia followed for several years in 3 successive generations and which represented a diagnostic challenge as the final diagnosis was provided only by genetic testing.

Published
2009

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