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Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
2016
Kathleen M. Gorman
Sally Ann Lynch
Adele Schneider
Dorothy K. Grange
Kathleen A. Williamson
David Fitzpatrick
Mary D. King
Keywords:
Genetics
SOX2 anophthalmia syndrome
SOXB1 Transcription Factors
Biology
Microphthalmos
Nonsense mutation
Dystonia
Status dystonicus
Pediatrics
Magnetic resonance imaging
infant newborn
fatal outcome
Correction
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