Article
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
Brain : a journal of neurology - 1 Sept 2006
Bosley Thomas M, Oystreck Darren T, Robertson Richard L, al Awad Abdulaziz, Abu-Amero Khaled, Engle Elizabeth C
Abstract excerpt
Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A. To define the clinical and neuroimaging features of patients with this autosomal recessive syndrome, we studied 15 patients with genetically defined CFEOM2. All patients underwent full neurological, neuro-ophthalmological and orthoptic...
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