Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

Am J Med Genet A. 2016 Nov;170(11):3048-3050. doi: 10.1002/ajmg.a.37849. Epub 2016 Jul 18.

Kathleen M Gorman¹, Sally A Lynch^{2

3}, Adele Schneider⁴, Dorothy K Grange⁵, Kathleen A Williamson⁶, David R FitzPatrick⁷, Mary D King^{8

2}

¹ Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland. kathleen.gorman@cuh.ie.
² Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 1, Ireland.
³ Clinical Genetics, Temple Street Children's University Hospital, Dublin 1, Ireland.
⁴ Genetics Division, Einstein Medical Center, Philadelphia, Pennsylvania.
⁵ Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
⁶ Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
⁷ Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom. david.fitzpatrick@ed.ac.uk.
⁸ Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.

No abstract available

Keywords: SOX2-Anophthalmia s; status dystonicus; yndrome.

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