NOVEL MUTATION IN THE COL11A1 GENE CAUSING MARSHALL-STICKLER SYNDROME IN THREE GENERATIONS OF A BULGARIAN FAMILY
Mladenova M1,2,*, Todorov T2, Grozdanova L3, Mitev V1, Todorova A1,2
*Corresponding Author: Dr. Mihaela Mladenova, Department of Medical Chemistry and Biochemistry, Medical University Sofia, 15 Acad. Ivan Geshov Str. Sofia, Bulgaria. Tel.: +359-9520-522. Fax: +359-2-9155-049. E-mail: mihaela.mladenova@gmail.com
page: 95

REFERENCES

1. Vallat M, Fritsch D, van Coppenolle F, Detre J, Moze M, Rasbourdin FI. Le syndrome de Stickler ou arthroophtalmopathie progressive héréditaire (Stickler’s syndrome or hereditary progressive arthro-opthalmopathy) [French]. J Fr Ophtalmol. 1985; 8(4): 301- 307. PMID: 4020040. 2. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc. 1965; 40: 433-455. 3. Herrmann J, France TD, Spranger JW, Opitz JM, Wiffler C. The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig Arctic Ser. 1975; 11(2): 76-103. 4. Marshall D. Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect. Am J Ophthalmol. 1958; 45(4 Pt 2): 143-156. 5. Shanske AL, Bogdanow A, Shprintzen RJ, Marion RW. The Marshall syndrome: Report of a new family and review of literature. Am J Med Genet. 1997; 70(1): 52-57. 6. Winter RM, Baraitser M, Laurence KM, Donna D, Hall CM. The Weissenbacher-Zweymüller, Stickler, and Marshall Syndromes: Further evidence of their identity. Am J Med Genet. 1983; 16(2): 189-199. 7. Cohen MM Jr. Letter: The demise of the Marshall syndrome. J Pediatr. 1974; 85(6): 878. 8. Stratton RF, Lee B, Ramirez F. Marshall syndrome. Am J Med Genet. 1991; 41(1): 35-38. 9. Aymé S, Preus M. The Marshall and Stickler syndromes: Objective rejection of lumping. J Med Genet. 1984; 21(1): 34-81. 10. Vintiner GM, Temple IK, Middleton-Price HR, Baraitser M, Malcolm S. Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet. 1991; 41(1): 44-48. 11. Akawi NA, Al Gazali L, Ali BR. Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet. 2011; 82(2): 147-156. 12. Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, et al. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A. 2007; 143A(3): 258-264.



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