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Volumn 27, Issue 5, 2010, Pages 492-495

Incontinentia pigmenti in a male infant with Klinefelter syndrome: A case report and review of the literature

Author keywords

[No Author keywords available]

Indexed keywords

OXACILLIN;

EID: 77957292543     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2010.01261.x     Document Type: Article
Times cited : (33)

References (15)
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    • Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti
    • The International Incontinentia Pigmenti (IP) Consortium.
    • Smahi A, Courtois G, Vabres P et al. The International Incontinentia Pigmenti (IP) Consortium. Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti. Nature 2000 405 : 466 472.
    • (2000) Nature , vol.405 , pp. 466-472
    • Smahi, A.1    Courtois, G.2    Vabres, P.3
  • 3
    • 0035205331 scopus 로고    scopus 로고
    • Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    • The International IP Consortium.
    • Kenwrick S, Woffendin H, Jakins T et al. The International IP Consortium. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 2001 69 : 1210 1217.
    • (2001) Am J Hum Genet , vol.69 , pp. 1210-1217
    • Kenwrick, S.1    Woffendin, H.2    Jakins, T.3
  • 4
    • 0035745382 scopus 로고    scopus 로고
    • Varon con incontinentia pigmenti asociada a sindrome de Klinefelter
    • Lorda-Sanchez I, de Paula M, Bardaro T et al. Varon con incontinentia pigmenti asociada a sindrome de Klinefelter. An Esp Pediatr 2001 55 : 177 178.
    • (2001) An Esp Pediatr , vol.55 , pp. 177-178
    • Lorda-Sanchez, I.1    De Paula, M.2    Bardaro, T.3
  • 5
    • 0038746753 scopus 로고    scopus 로고
    • Novel corneal features in two males with incontinentia pigmenti
    • Mayer EJ, Shuttleworth GN, Greenhalgh KL et al. Novel corneal features in two males with incontinentia pigmenti. Br J Ophthalmol 2003 87 : 554 556.
    • (2003) Br J Ophthalmol , vol.87 , pp. 554-556
    • Mayer, E.J.1    Shuttleworth, G.N.2    Greenhalgh, K.L.3
  • 6
    • 0032543269 scopus 로고    scopus 로고
    • Male cases of incontinentia pigmenti: Case report and review
    • Scheuerle AE. Male cases of incontinentia pigmenti: case report and review. Am J Med Genet 1998 77 : 201 218.
    • (1998) Am J Med Genet , vol.77 , pp. 201-218
    • Scheuerle, A.E.1
  • 7
    • 0035089759 scopus 로고    scopus 로고
    • Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)
    • Aradhya S, Courtois G, Rajkovic A et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet 2001 68 : 765 771.
    • (2001) Am J Hum Genet , vol.68 , pp. 765-771
    • Aradhya, S.1    Courtois, G.2    Rajkovic, A.3
  • 8
    • 0026717589 scopus 로고
    • Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome
    • Fowell SM, Greenwald MJ, Prendiville JS et al. Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome. J Pediatr Ophthalmol Strabismus 1992 29 : 180 184.
    • (1992) J Pediatr Ophthalmol Strabismus , vol.29 , pp. 180-184
    • Fowell, S.M.1    Greenwald, M.J.2    Prendiville, J.S.3
  • 10
    • 0017360316 scopus 로고
    • Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger
    • Kunze J, Frenzel UH, Huttig E et al. Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger. Hum Genet 1977 35 : 237 240.
    • (1977) Hum Genet , vol.35 , pp. 237-240
    • Kunze, J.1    Frenzel, U.H.2    Huttig, E.3
  • 11
    • 0023217752 scopus 로고
    • Incontinentia pigmenti in a boy with Klinefelter's syndrome
    • Ormerod AD, White MI, McKay E et al. Incontinentia pigmenti in a boy with Klinefelter's syndrome. J Med Genet 1987 24 : 439 441.
    • (1987) J Med Genet , vol.24 , pp. 439-441
    • Ormerod, A.D.1    White, M.I.2    McKay, E.3
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    • Incontinentia pigmenti in a male infant with Klinefelter syndrome
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    • (1989) J Am Acad Dermatol , vol.20 , pp. 937-940
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  • 13
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    • (1993) J Med Genet , vol.30 , pp. 53-59
    • Landy, S.J.1    Donnai, D.2
  • 15
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    • Incontinentia pigmenti in a five-week-old girl
    • Wiederholt T, Poblete-Gutierrez P, Ott H et al. Incontinentia pigmenti in a five-week-old girl. Hautarzt 2004 55 : 999 1001.
    • (2004) Hautarzt , vol.55 , pp. 999-1001
    • Wiederholt, T.1    Poblete-Gutierrez, P.2    Ott, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.