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Volumn 32, Issue 6, 2010, Pages 502-505

A case of Baraitser-Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia

Author keywords

Baraitser Winter syndrome; Pachygyria; Periventricular heterotopia; Subcortical band heterotopia

Indexed keywords

PHENOBARBITAL;

EID: 77952547349     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2009.04.015     Document Type: Article
Times cited : (12)

References (9)
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  • 2
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    • (2003) Neuropediatrics , vol.34 , pp. 287-292
    • Rossi, M.1    Guerrini, R.2    Dobyns, W.B.3    Andria, G.4    Winter, R.M.5
  • 3
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    • The phenotypic spectrum of Baraitser-Winter syndrome: a new case and review of literature
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    • (2005) J AAPOS , vol.9 , pp. 604-606
    • Ganesh, A.1    Al-Kindi, A.2    Jain, R.3    Raeburn, S.4
  • 4
    • 0025851744 scopus 로고
    • Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2
    • Pallotta R. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. J Med Genet 1991, 28:342-344.
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    • Pallotta, R.1
  • 5
    • 0018286225 scopus 로고
    • Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents
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    • Ayme, S.1    Mattei, M.G.2    Mattei, J.F.3    Giraud, F.4
  • 6
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    • Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation
    • Ramer J.C., Lin A.E., Dobyns W.B., Winter R., Aymé S., Pallotta R., et al. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet 1995, 57:403-409.
    • (1995) Am J Med Genet , vol.57 , pp. 403-409
    • Ramer, J.C.1    Lin, A.E.2    Dobyns, W.B.3    Winter, R.4    Aymé, S.5    Pallotta, R.6
  • 7
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    • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
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  • 8
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    • Lissencephaly and the molecular basis of neuronal migration
    • Review issue 1
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    • Kato, M.1    Dobyns, W.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.