Article
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Human mutation - 1 Mar 2010
Perrault Isabelle, Hanein Sylvain, Gerard Xavier, Delphin Nathalie, Fares-Taie Lucas, Gerber Sylvie, Pelletier Valérie, Mercé Emilie, Dollfus Hélène, Puech Bernard, Defoort-Dhellemmes Sabine, Petersen Michael D, Zafeiriou Dimitrios, Munnich Arnold, Kaplan Josseline, Roche Olivier, Rozet Jean-Michel
Abstract excerpt
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration. It may present as a congenital stationary cone-rod dystrophy (LCA type I) or a progressive yet severe rod-cone dystrophy (LCA type II). Twelve LCA genes have been identified, three of which account for Type I and nine for LCA type II. All proteins encoded by these genes but two are preferentially expressed in the retina and are...
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