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Case Reports

Vitreous Veils and Radial Lattice in Marshall Syndrome

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Pages 184-185 | Received 19 May 2008, Accepted 06 Aug 2008, Published online: 08 Jul 2009

REFERENCES

  • Annunen S, Korkko J, Czarny M, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999; 65: 974–983
  • Stratton R F, Lee B, Ramirez F. Marshall syndrome. Am J Med Genet. 1991; 41: 35–38
  • Marshall D. Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect. Am J Ophthalmol. 1958; 45: 143–156
  • Majava M, Hoornaert K P, Bartholdi D, et al. A report on 10 new patients with hererozygous mutation in the COL11A1 gene and a review of genotype-phenotype correlation in type XI collagenopathies. Am J Med Genet A 2007; 1(143A)258–64
  • Griffith A J, Sprunger L K, Sirko-Osadsa D A, et al. Marshall syndrome associated with a splicing defect at the COL11A1 gene. Am J Hum Genet. 1998; 62: 816–823
  • Vu C D, Brown J, Jr., Korkko J, et al. Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. Ophthalmology 2003; 110: 70–7
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  • Li Y, Lacerda D A, Warman M L, et al. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell. 1995; 80: 423–430

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