title: Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.
abstract: We present the ophthalmologic findings in a boy with a deletion of Xp22 comprising the gene for Nance-Horan syndrome. Different mechanisms underlying the visual impairment in Nance-Horan syndrome are discussed.
authors.affiliation: Department of Paediatric Ophthalmology, UZ Brussel, Brussels, Belgium. renske.mathys@uzbrussel.be
authors.forename: R
authors.initials: R
authors.lastname: Mathys
authors.forename: H
authors.initials: H
authors.lastname: Deconinck
authors.forename: K
authors.initials: K
authors.lastname: Keymolen
authors.forename: A
authors.initials: A
authors.lastname: Jansen
authors.forename: H
authors.initials: H
authors.lastname: Van Esch
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002386:Cataract / Q000151:congenital*; D041321:Chromosomes, Human, X; D017809:Fatal Outcome; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000175:diagnosis / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human