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Volumn 4, Issue 3, 2016, Pages 294-297

Williams-Beuren syndrome: Pitfalls for diagnosis in limited resources setting

Author keywords

Central Africa; Democratic Republic of Congo; Phenotype; Williams syndrome

Indexed keywords


EID: 85028607090     PISSN: None     EISSN: 20500904     Source Type: Journal    
DOI: 10.1002/ccr3.476     Document Type: Article
Times cited : (12)

References (16)
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    • Copy number variants at Williams-Beuren syndrome 7q11.23 region
    • Merla, G., N. Brunetti-Pierri, L. Micale, and C. Fusco . 2010. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum. Genet. 128:3-26.
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    • Merla, G.1    Brunetti-Pierri, N.2    Micale, L.3    Fusco, C.4
  • 4
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    • Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India
    • Patil, S. J., B. G. Madhusudhan, S. Shah, and P. V. Suresh . 2012. Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India. Am. J. Med. Genet. Part A 158A:1729-1734.
    • (2012) Am. J. Med. Genet. Part A , vol.158A , pp. 1729-1734
    • Patil, S.J.1    Madhusudhan, B.G.2    Shah, S.3    Suresh, P.V.4
  • 5
    • 44049103092 scopus 로고    scopus 로고
    • Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype
    • Martens, M. A., S. J. Wilson, and D. C. Reutens . 2008. Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J. Child Psychol. Psychiatry 49:576-608.
    • (2008) J. Child Psychol. Psychiatry , vol.49 , pp. 576-608
    • Martens, M.A.1    Wilson, S.J.2    Reutens, D.C.3
  • 6
    • 77951537179 scopus 로고    scopus 로고
    • Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches
    • Mervis, C. B., and A. E. John . 2010. Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches. Am. J. Med. Genet. Part C Semin. Med. Genet. 154C:229-248.
    • (2010) Am. J. Med. Genet. Part C Semin. Med. Genet. , vol.154C , pp. 229-248
    • Mervis, C.B.1    John, A.E.2
  • 8
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    • Challenges in clinical diagnosis of Williams-Beuren syndrome in sub-Saharan Africans: case reports from Cameroon
    • Tekendo-Ngongang, C., S. Dahoun, S. Nguefack, S. Gimelli, F. Sloan-Bena, and A. Wonkam . 2014. Challenges in clinical diagnosis of Williams-Beuren syndrome in sub-Saharan Africans: case reports from Cameroon. Mol. Syndromol. 5:287-292.
    • (2014) Mol. Syndromol. , vol.5 , pp. 287-292
    • Tekendo-Ngongang, C.1    Dahoun, S.2    Nguefack, S.3    Gimelli, S.4    Sloan-Bena, F.5    Wonkam, A.6
  • 9
    • 0347123261 scopus 로고    scopus 로고
    • "Everybody in the world is my friend" hypersociability in young children with Williams syndrome
    • Doyle, T. F., U. Bellugi, J. R. Korenberg, and J. Graham . 2004. "Everybody in the world is my friend" hypersociability in young children with Williams syndrome. Am. J. Med. Genet. Part A 124A:263-273.
    • (2004) Am. J. Med. Genet. Part A , vol.124A , pp. 263-273
    • Doyle, T.F.1    Bellugi, U.2    Korenberg, J.R.3    Graham, J.4
  • 11
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    • Williams syndrome presenting with findings consistent with Alagille syndrome
    • Sakhuja, P., H. Whyte, B. Kamath, N. Martin, and D. Chitayat . 2015. Williams syndrome presenting with findings consistent with Alagille syndrome. Clin. Case Rep. 3:24-28.
    • (2015) Clin. Case Rep. , vol.3 , pp. 24-28
    • Sakhuja, P.1    Whyte, H.2    Kamath, B.3    Martin, N.4    Chitayat, D.5
  • 12
    • 84890788629 scopus 로고    scopus 로고
    • Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits
    • Fusco, C., L. Micale, B. Augello, M. Teresa Pellico, D. Menghini, P. Alfieri, et al. 2014. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Eur. J. Hum. Genet. 22:64-70.
    • (2014) Eur. J. Hum. Genet. , vol.22 , pp. 64-70
    • Fusco, C.1    Micale, L.2    Augello, B.3    Teresa Pellico, M.4    Menghini, D.5    Alfieri, P.6
  • 13
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    • Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients
    • Ferrero, G. B., E. Biamino, L. Sorasio, E. Banaudi, L. Peruzzi, S. Forzano, et al. 2007. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Eur. J. Med. Genet. 50:327-337.
    • (2007) Eur. J. Med. Genet. , vol.50 , pp. 327-337
    • Ferrero, G.B.1    Biamino, E.2    Sorasio, L.3    Banaudi, E.4    Peruzzi, L.5    Forzano, S.6
  • 16
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    • X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa
    • Lumaka, A., G. Mubungu, C. Nsibu, B. P. Tady, T. Lukusa, and K. Devriendt . 2012. X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa. Eur. J. Pediatr. 171:267-270.
    • (2012) Eur. J. Pediatr. , vol.171 , pp. 267-270
    • Lumaka, A.1    Mubungu, G.2    Nsibu, C.3    Tady, B.P.4    Lukusa, T.5    Devriendt, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.