Article
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
PloS one - 1 Jan 2013
Perrault Isabelle, Estrada-Cuzcano Alejandro, Lopez Irma, Kohl Susanne, Li Shiqiang, Testa Francesco, Zekveld-Vroon Renate, Wang Xia, Pomares Esther, Andorf Jean, Aboussair Nisrine, Banfi Sandro, Delphin Nathalie, den Hollander Anneke I, Edelson Catherine, Florijn Ralph, Jean-Pierre Marc, Leowski Corinne, Megarbane Andre, Villanueva Cristina, Flores Blanca, Munnich Arnold, Ren Huanan, Zobor Ditta, Bergen Arthur, Chen Rui, Cremers Frans P M, Gonzalez-Duarte Roser, Koenekoop Robert K, Simonelli Francesca, Stone Edwin, Wissinger Bernd, Zhang Qingjiong, Kaplan Josseline, Rozet Jean-Michel
Abstract excerpt
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosis will require a specific care of patients. Nineteen LCA genes are currently identified and three of them account for both non-syndromic and syndromic forms of the...
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