References
- Jen JC, Chan WM, Bosley TM, et al.: Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004; 304: 1509–1513.
- Tischfield MA, Bosley TM, Salih MA, et al.: Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular, and cognitive development. Nat Genet 2005; 37: 1035–1037.
- Gutowski NJ, Bosley TM, Engle EC: 110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25–27 October, 2002. Neuromuscul Disord 2003; 13: 573–578.
- Hotchkiss MG, Miller NR, Clark AW, Green WR: Bilateral Duane's retraction syndrome: A clinical-pathologic case report. Arch Ophthalmol 1980; 98: 870–874.
- Miller NR, Kiel SM, Green WR, Clark AW: Unilateral Duane's retraction syndrome (Type 1). Arch Ophthalmol 1982; 100: 1468–1472.
- Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH: Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 1997; 41: 314–325.
- Towfighi J, Marks K, Palmer E, Vannucci R: Mobius syndrome: Neuropathologic observations. Acta Neuropathol 1979; 48: 11–17.
- Brodsky MC, Pollock SC, Buckley EG: Neural misdirection in congenital ocular fibrosis syndrome: Implications and pathogenesis. J Pediatr Ophthalmol Strabismus 1989; 26: 159–161.
- Bosley TM, Abu-Amero KK, Oystreck DT: Congenital cranial dysinnervation disorders: A concept in evolution. Curr Opin Ophthalmol 2013; 24: 398–406.
- MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC: Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius syndrome. Ophthalmology 2014; 121: 1461–1468.
- Bosley TM, Salih MA, Jen JC, Lin DD, Oystreck DT, et al.: Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Neurology 2005; 64: 1196–1203.
- Hayes A, Costa T, Polomeno RC: The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. Am J Med Genet 1985; 22: 273–280.
- Bosley TM, Salih MA, Alorainy IA, Oystreck DT, et al.: Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology 2007; 69: 1245–1253.
- Engle EC, Marondel I, Houtman WA, et al.: Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet 1995; 57: 1086–1094.
- Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero K, Engle EC: Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain 2006; 129: 2363–2374.
- Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC: CFEOM3: Anew extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci 1999; 40: 1687–1694.
- Yamada K, Andrews C, Chan WM, et al.: Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 2003; 35: 318–321.
- Demer JL, Clark RA, Engle EC: Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci 2005; 46: 530–539.
- Nakano M, Yamada K, Fain J, Sener EC, et al.: Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 2001; 29: 315–320.
- Tischfield MA, Baris HN, Wu C, Rudolph G, et al.: Human TUBB3 mutations perturb micro-tubule dynamics, kinesin interactions, and axon guidance. Cell 2010; 140: 74–87.
- Chew S, Balasubramanian R, Chan WM, et al.: A novel syndrome caused by the E410K amino acid substitution in the neuronal beta-tubulin isotype 3. Brain 2013; 136: 522–535.
- Khan AO, Oystreck DT, Al-Tassan N, Al-Sharif L, Bosley TM: Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu). Ophthalmology 2008; 115: 2262–2265.
- Holve S, Friedman B, Hoyme HE, Tarby TJ, et al.: Athabascan brainstem dysgenesis syndrome. Am J Med Genet A 2003; 120A: 169–173.
- Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, et al.: The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A 2008; 146A: 1235–1240.