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Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies (IRD) and the most frequent cause of inherited blindness in children. The phenotypic overlap with other early-onset and severe IRDs as well as difficulties associated with the ophthalmic examin...

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Detalles Bibliográficos
Autores principales:	Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P. M., Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303042/ https://www.ncbi.nlm.nih.gov/pubmed/30576320 http://dx.doi.org/10.1371/journal.pone.0205380

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