title: First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.
authors.forename: A
authors.initials: A
authors.lastname: Gehrig
authors.forename: B H
authors.initials: BH
authors.lastname: Weber
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: M
authors.initials: M
authors.lastname: Andrassi
mesh_terms: D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D015355:Glaucoma, Neovascular / Q000209:etiology; D006801:Humans; D008297:Male; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human