title: Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
authors.affiliation: Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland. kathleen.gorman@cuh.ie.
authors.forename: Kathleen M
authors.initials: KM
authors.lastname: Gorman
authors.affiliation: Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 1, Ireland.|Clinical Genetics, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors.forename: Sally A
authors.initials: SA
authors.lastname: Lynch
authors.affiliation: Genetics Division, Einstein Medical Center, Philadelphia, Pennsylvania.
authors.forename: Adele
authors.initials: A
authors.lastname: Schneider
authors.affiliation: Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
authors.forename: Dorothy K
authors.initials: DK
authors.lastname: Grange
authors.affiliation: Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Williamson
authors.affiliation: Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom. david.fitzpatrick@ed.ac.uk.
authors.forename: David R
authors.initials: DR
authors.lastname: FitzPatrick
authors.affiliation: Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.|Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 1, Ireland.
authors.forename: Mary D
authors.initials: MD
authors.lastname: King
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D018389:Codon, Nonsense; D004421:Dystonia / Q000473:pathology*; D004933:Esophageal Atresia / Q000000981:diagnostic imaging / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008850:Microphthalmos / Q000000981:diagnostic imaging / Q000473:pathology*; D009421:Nervous System Malformations / Q000000981:diagnostic imaging / Q000473:pathology*; D055748:SOXB1 Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors
keywords: SOX2-Anophthalmia s; status dystonicus; yndrome