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Volumn 81, Issue 2, 2012, Pages 198-199

A novel mutation in PRDM5 in brittle cornea syndrome

Author keywords

[No Author keywords available]

Indexed keywords

BRITTLE CORNEA SYNDROME; CASE REPORT; CHILD; CONTROLLED STUDY; CORNEA DISEASE; CORNEA INJURY; EXOME; EXON; FEMALE; GENE MAPPING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KERATOCONUS; LETTER; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PRDM5 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; ZNF469 GENE;

EID: 84855965055     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01808.x     Document Type: Letter
Times cited : (23)

References (8)
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    • Al-Hussain H, Zeisberger SM, Huber PR et al. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. Am J Med Genet A 2004: 124A: 28-34.
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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: 1217-1222.
    • (2008) Am J Hum Genet , vol.82 , pp. 1217-1222
    • Abu, A.1    Frydman, M.2    Marek, D.3
  • 3
    • 77958004303 scopus 로고    scopus 로고
    • Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).
    • Khan AO, Aldahmesh MA, Mohamed JN et al. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol 2010: 128: 1376-1379.
    • (2010) Arch Ophthalmol , vol.128 , pp. 1376-1379
    • Khan, A.O.1    Aldahmesh, M.A.2    Mohamed, J.N.3
  • 4
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    • Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
    • Aldahmesh MA, Khan AO, Mohamed JY et al. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet 2011: 48: 597-601.
    • (2011) J Med Genet , vol.48 , pp. 597-601
    • Aldahmesh, M.A.1    Khan, A.O.2    Mohamed, J.Y.3
  • 5
    • 79958826990 scopus 로고    scopus 로고
    • Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
    • Burkitt Wright EM, Spencer HL, Daly SB et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 2011: 88: 767-777.
    • (2011) Am J Hum Genet , vol.88 , pp. 767-777
    • Burkitt Wright, E.M.1    Spencer, H.L.2    Daly, S.B.3
  • 6
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    • The tumor suppressor PRDM5 regulates Wnt signaling at early stages of zebrafish development.
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  • 7
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    • Prdm16 is required for normal palatogenesis in mice.
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    • (2010) Hum Mol Genet , vol.19 , pp. 774-789
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  • 8
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    • PRDM5 is silenced in human cancers and has growth suppressive activities.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.