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Volumn 5, Issue 1, 2001, Pages 58-59

Cutaneous peculiarities in blepharophimosis-ptosis-epicanthus inversus syndrome: Report of a case

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CONGENITAL MALFORMATION; EYE MALFORMATION; EYELID; FEMALE; GENETICS; HUMAN; PATHOLOGY; PTOSIS; SKIN DISEASE; SYNDROME;

EID: 0035260382     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpa.2001.111781     Document Type: Article
Times cited : (1)

References (9)
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    • (1996) Acta Ophthalmol Scand , vol.74 , pp. 45-47
    • Strømme, P.1    Sandboe, F.2
  • 2
    • 0021718938 scopus 로고
    • Blepharophimosis and its association with female infertility
    • Jones CA, Collin JRO. Blepharophimosis and its association with female infertility. Br J Ophthalmol 1984;68:533-4.
    • (1984) Br J Ophthalmol , vol.68 , pp. 533-534
    • Jones, C.A.1    Collin, J.R.O.2
  • 3
    • 0020508397 scopus 로고
    • The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
    • Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 1983;35:1020-7.
    • (1983) Am J Hum Genet , vol.35 , pp. 1020-1027
    • Zlotogora, J.1    Sagi, M.2    Cohen, T.3
  • 4
    • 0006758234 scopus 로고
    • Die zurückführung einer reihe erblich-angeborener familiärer augenmißbildungen auf eine fixation normaler fetaler verhältnisse
    • Waardenburg PJ. Die Zurückführung einer Reihe erblich-angeborener familiärer Augenmißbildungen auf eine Fixation normaler fetaler Verhältnisse. Archiv für Ophthalmologie 1930;124:221-9.
    • (1930) Archiv für Ophthalmologie , vol.124 , pp. 221-229
    • Waardenburg, P.J.1
  • 5
    • 0033118885 scopus 로고    scopus 로고
    • Closing in on the BPES gene on 3q23: Mapping of a de novo reciprocal translocation t(3;4) (q23;p 15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β'-COP, distal to the breakpoint
    • De Baere E, Van Roy N, Speleman F, Fukushima Y, De Paepe A, Messiaen L. Closing in on the BPES gene on 3q23: mapping of a de novo reciprocal translocation t(3;4) (q23;p 15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β'-COP, distal to the breakpoint. Genomics 1999;57:70-8.
    • (1999) Genomics , vol.57 , pp. 70-78
    • De Baere, E.1    Van Roy, N.2    Speleman, F.3    Fukushima, Y.4    De Paepe, A.5    Messiaen, L.6
  • 6
    • 0029850981 scopus 로고    scopus 로고
    • Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
    • Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, et al. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet 1996;5:2049-54.
    • (1996) Hum Mol Genet , vol.5 , pp. 2049-2054
    • Maw, M.1    Kar, B.2    Biswas, J.3    Biswas, P.4    Nancarrow, D.5    Bridges, R.6
  • 7
    • 0009634770 scopus 로고
    • Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis
    • Johnson CC. Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis. Arch Ophthalmol 1964;71:510-6.
    • (1964) Arch Ophthalmol , vol.71 , pp. 510-516
    • Johnson, C.C.1
  • 8
    • 0030731451 scopus 로고    scopus 로고
    • Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality
    • Matsuoka Y, Shibuya Y Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality. Am J Ophthalmol 1997;124:855-6.
    • (1997) Am J Ophthalmol , vol.124 , pp. 855-856
    • Matsuoka, Y.1    Shibuya, Y.2
  • 9
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    • Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities
    • Cunniff C, Curtis M, Hassed SJ, Hoyme HE. Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities. Am J Med Genet 1998;75:52-4.
    • (1998) Am J Med Genet , vol.75 , pp. 52-54
    • Cunniff, C.1    Curtis, M.2    Hassed, S.J.3    Hoyme, H.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.