Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis

To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease. This study included 72 members in 13 families. Complete ophthalmological examination...

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Veröffentlicht in:	Molecular vision Jg. 14; S. 2321 - 2332
Hauptverfasser:	Lesch, B, Szabó, V, Kánya, M, Somfai, G M, Vámos, R, Varsányi, B, Pámer, Zs, Knézy, K, Salacz, Gy, Janáky, M, Ferencz, M, Hargitai, J, Papp, A, Farkas, A
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Molecular Vision 12.12.2008
Schlagworte:	Adolescent Adult Age Distribution Case-Control Studies Child DNA Mutational Analysis Electroretinography European Continental Ancestry Group - genetics Eye Proteins - genetics Female Fovea Centralis - pathology Fundus Oculi Heterozygote Humans Hungary Male Mutation - genetics Pedigree Retina - pathology Retinoschisis - classification Retinoschisis - genetics Retinoschisis - pathology Retinoschisis - physiopathology Time Factors Tomography, Optical Coherence Visual Acuity Hungary
ISSN:	1090-0535, 1090-0535
Online-Zugang:	Volltext
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