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

Kathleen M. Gorman, Sally A. Lynch, Adele Schneider, Dorothy K. Grange, Kathleen A. Williamson, David R. FitzPatrick, Mary D. King

Research output: Contribution to journalLetterpeer-review

5 Scopus citations
Original languageEnglish
Pages (from-to)3048-3050
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number11
DOIs
StatePublished - Nov 1 2016

Keywords

  • SOX2-Anophthalmia s
  • status dystonicus
  • yndrome

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