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Volumn 43, Issue 4, 2008, Pages 744-747

Association of Shah-Waardenburgh syndrome: a review of 6 cases

Author keywords

Blue iris; Heterochromia; Hirschsprung's disease; Sensorineural deafness; Shah Waardenburg syndrome; White forelock

Indexed keywords

AGANGLIONOSIS; ARTICLE; AUDIOMETRY; CLINICAL FEATURE; DEPIGMENTATION; DISEASE ASSOCIATION; ENTEROCOLITIS; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; JEJUNUM BIOPSY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECTUM BIOPSY; SHAH WAARDENBURGH SYNDROME; SURGICAL TECHNIQUE; WAARDENBURG SYNDROME;

EID: 41549153704     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2007.11.023     Document Type: Article
Times cited : (13)

References (8)
  • 1
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  • 2
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    • Waardenburg's syndrome associated with total aganglionosis
    • Farndon P.A., and Bianchi A. Waardenburg's syndrome associated with total aganglionosis. Arch Dis Child 11 (1983) 932-933
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  • 3
    • 41549167884 scopus 로고    scopus 로고
    • Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome
    • Gnananayagam E.J., Solomon R., Chandran A., et al. Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome. Semin Pediatr Surg 3 (2003) 156-161
    • (2003) Semin Pediatr Surg , vol.3 , pp. 156-161
    • Gnananayagam, E.J.1    Solomon, R.2    Chandran, A.3
  • 4
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    • Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes
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    • Moore, S.W.1    Johnson, A.G.2
  • 5
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    • Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature
    • Verheij J.B., Sival D.A., van der Hoeven J.H., et al. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. Eur J Paediatr Neuro 1 (2006) 11-17
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    • Verheij, J.B.1    Sival, D.A.2    van der Hoeven, J.H.3
  • 6
    • 0141988843 scopus 로고    scopus 로고
    • Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: differential effects on target gene regulation
    • Chan K.K., Wong C.K., Lui V.C., et al. Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: differential effects on target gene regulation. J Cell Biochem 3 (2003) 573-585
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    • Chan, K.K.1    Wong, C.K.2    Lui, V.C.3
  • 7
    • 33750095673 scopus 로고    scopus 로고
    • Waardenburg syndrome in the Turkish deaf population
    • Silan F., Zafer C., and Onder I. Waardenburg syndrome in the Turkish deaf population. Genet Couns 17 (2006) 41-48
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    • Silan, F.1    Zafer, C.2    Onder, I.3
  • 8
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    • Long-term outcome of patients with enterocolitis complicating Hirschsprung's disease
    • Menezes M., and Puri P. Long-term outcome of patients with enterocolitis complicating Hirschsprung's disease. Pediatr Surg Int 22 (2006) 316-318
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    • Menezes, M.1    Puri, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.