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Volumn 28, Issue 6, 2011, Pages 670-673

Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME BANDING PATTERN; CHROMOSOME BREAKAGE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL SKIN DISEASE; CUTIS TRICOLOR PARVIMACULATA; FACE MALFORMATION; FEMALE; GROWTH RETARDATION; HUMAN; HYPERPIGMENTATION; HYPERTELORISM; HYPOPIGMENTATION; INFANT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MICROCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME 15 SYNDROME; SKIN EXAMINATION;

EID: 81255160971     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2011.01470.x     Document Type: Article
Times cited : (12)

References (12)
  • 1
    • 23844525640 scopus 로고    scopus 로고
    • Cutis tricolor parvimaculata: A distinct neurocutaneous syndrome?
    • DOI 10.1159/000086446
    • Larralde M, Happle R,. Cutis tricolor parvimaculata. A distinct neurocutaneous syndrome? Dermatology 2005; 211: 149-151. (Pubitemid 41160252)
    • (2005) Dermatology , vol.211 , Issue.2 , pp. 149-151
    • Larralde, M.1    Happle, R.2
  • 2
    • 0030788743 scopus 로고    scopus 로고
    • 'Cutis tricolor': Congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: An unusual example of twin spotting?
    • Happle R, Barbi G, Eckert D, et al., 'Cutis tricolor': congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect. An unusual example of twin spotting? J Med Genet 1997; 34: 676-678. (Pubitemid 27356888)
    • (1997) Journal of Medical Genetics , vol.34 , Issue.8 , pp. 676-678
    • Happle, R.1    Barbi, G.2    Eckert, D.3    Kennerknecht, I.4
  • 3
    • 0029078143 scopus 로고
    • Good growth hormone response to growth hormone treatment in the ring chromosome 15 syndrome
    • Nuutinen M, Kouvalainen K, Knip M,. Good growth hormone response to growth hormone treatment in the ring chromosome 15 syndrome. J Med Genet 1995; 32: 486-487.
    • (1995) J Med Genet , vol.32 , pp. 486-487
    • Nuutinen, M.1    Kouvalainen, K.2    Knip, M.3
  • 4
    • 0022527329 scopus 로고
    • Ring chromosome 15 syndrome. Further delineation of the adult phenotype
    • Fryns JP, Kleckzkowska A, Buttiens M, et al., Ring chromosome 15 syndrome. Further delineation of the adult phenotype. Ann Genet (Paris) 1986; 29: 45-48. (Pubitemid 16079464)
    • (1986) Annales de Genetique , vol.29 , Issue.1 , pp. 45-48
    • Fryns, J.P.1    Kleczkowska, A.2    Buttiens, M.3
  • 5
    • 0023838293 scopus 로고
    • Two patients with ring chromosome 15 syndrome
    • Butler MG, Fogo AB, Fuchs DA, et al., Two patients with ring chromosome 15 syndrome. Am J Med Genet 1988; 29: 149-154.
    • (1988) Am J Med Genet , vol.29 , pp. 149-154
    • Butler, M.G.1    Fogo, A.B.2    Fuchs, D.A.3
  • 6
    • 0141532992 scopus 로고    scopus 로고
    • A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion
    • Morava E, Bartsch O, Czako M, et al., A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant delection. Genet Couns 2003; 14: 337-342. (Pubitemid 37210412)
    • (2003) Genetic Counseling , vol.14 , Issue.3 , pp. 337-342
    • Morava, E.1    Bartsch, O.2    Czako, M.3    Frensel, A.4    Karteszi, J.5    Kosztolanyt, G.Y.6
  • 7
    • 0033818003 scopus 로고    scopus 로고
    • Cutis tricolor: Congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: Further expansion of the phenotype
    • Ruggieri M,. Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype. Eur J Pediatr 2000; 159: 745-749.
    • (2000) Eur J Pediatr , vol.159 , pp. 745-749
    • Ruggieri, M.1
  • 9
    • 0026023482 scopus 로고
    • Allelic somatic mutations may explain vascular twin nevi
    • Happle R,. Allelic somatic mutations may explain vascular twin nevi. Hum Genet 1991; 86: 321-322.
    • (1991) Hum Genet , vol.86 , pp. 321-322
    • Happle, R.1
  • 10
    • 0027452134 scopus 로고
    • Mosaicism in human skin: Understanding the patterns and mechanisms
    • DOI 10.1001/archderm.129.11.1460
    • Happle R,. Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 1993; 129: 1460-1470. (Pubitemid 23330967)
    • (1993) Archives of Dermatology , vol.129 , Issue.11 , pp. 1460-1470
    • Happle, R.1
  • 11
    • 0029043193 scopus 로고
    • Hemizygosity at the insuline-like growth factor i receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome
    • Peoples R, Milatovich A, Francke U,. Hemizygosity at the insuline-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome. Cytogenet Cell Genet 1995; 70: 228-234.
    • (1995) Cytogenet Cell Genet , vol.70 , pp. 228-234
    • Peoples, R.1    Milatovich, A.2    Francke, U.3
  • 12


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.