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Archives of Ophthalmology
Volumn 128, Issue 10, 2010, Pages 1376-1379
Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X)
Author keywords

[No Author keywords available]
Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BONE RADIOGRAPHY; BRITTLE CORNEA SYNDROME; CASE REPORT; CHILD; CONGENITAL GLAUCOMA; CONSANGUINEOUS MARRIAGE; CORNEA DISEASE; EYE EXAMINATION; FEMALE; GENE; GENE MUTATION; HUMAN; LORDOSIS; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCLERA; ZNF469 GENE; CONSANGUINITY; CORNEAL DISEASES; EYE DISEASES, HEREDITARY; GENETICS; GENOTYPE; MUTATION; PHENOTYPE; SCLERAL DISEASES; SYNDROME;
EID: 77958004303     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2010.238     Document Type: Article
Times cited : (26)
References (6)
  • 1
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  • 2
    • 42749097003 scopus 로고    scopus 로고
    • Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome
    • Abu A, Frydman M, Marek D, et al. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet. 2008;82(5):1217-1222.
    • (2008) Am J Hum Genet , vol.82 , Issue.5 , pp. 1217-1222
    • Abu, A.1    Frydman, M.2    Marek, D.3
  • 3
    • 75749119007 scopus 로고    scopus 로고
    • Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene
    • Christensen AE, Knappskog PM, Midtbø M, et al. Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Invest Ophthalmol Vis Sci. 2010;51(1):47-52.
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    • Christensen, A.E.1    Knappskog, P.M.2    Midtbø, M.3
  • 4
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    • (1998) Am J Med Genet , vol.77 , Issue.1 , pp. 31-37
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  • 5
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    • Blue sclerae and keratoglobus: Ocular signs of a systemic connective tissue disorder
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  • 6
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    • Brittle cornea: A familial trait associated with blue sclera
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.