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Volumn 34, Issue 10, 2012, Pages 881-885

A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma

Author keywords

Brainstem anomaly; Cerebellar anomaly; Epidermal nevus; Medulloblastoma

Indexed keywords

ARTICLE; BRAIN MALFORMATION; BRAIN STEM; CASE REPORT; CEREBELLUM; COMORBIDITY; DISEASE SEVERITY; GRANULE CELL; HISTOPATHOLOGY; HUMAN; INFANT; MACROCEPHALY; MALE; MEDULLOBLASTOMA; MESENCEPHALON; MICROGYRIA; NEVUS UNIUS LATERIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHAKOMATOSIS; PURKINJE CELL; RHOMBENCEPHALON; TECTUM;

EID: 84867696172     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.03.003     Document Type: Article
Times cited : (6)

References (13)
  • 1
    • 0026065777 scopus 로고
    • Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy
    • Pavone L., Curatolo P., Rizzo R., Micali G., Incorpora G., Garg B.P., et al. Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology 1991, 41:266-271.
    • (1991) Neurology , vol.41 , pp. 266-271
    • Pavone, L.1    Curatolo, P.2    Rizzo, R.3    Micali, G.4    Incorpora, G.5    Garg, B.P.6
  • 2
    • 0027295685 scopus 로고
    • Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review
    • Grebe T.A., Rimsza M.E., Richter S.F., Hansen R.C., Hoyme H. Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. Am J Med Genet 1993, 47:24-30.
    • (1993) Am J Med Genet , vol.47 , pp. 24-30
    • Grebe, T.A.1    Rimsza, M.E.2    Richter, S.F.3    Hansen, R.C.4    Hoyme, H.5
  • 3
    • 0034855277 scopus 로고    scopus 로고
    • Hemimegalencephaly and linear nevus sebaceous syndrome
    • Herman T.E., Siegel M.J. Hemimegalencephaly and linear nevus sebaceous syndrome. J Perinatol 2001, 21:336-338.
    • (2001) J Perinatol , vol.21 , pp. 336-338
    • Herman, T.E.1    Siegel, M.J.2
  • 4
    • 0032910116 scopus 로고    scopus 로고
    • Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?
    • Hennekam R.C., Kwa V.I., van Amerongen A. Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?. Clin Dysmorphol 1999, 8:111-115.
    • (1999) Clin Dysmorphol , vol.8 , pp. 111-115
    • Hennekam, R.C.1    Kwa, V.I.2    van Amerongen, A.3
  • 5
    • 0028932489 scopus 로고
    • Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome
    • Dodge N.N., Dobyns W.B. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet 1995, 56:147-150.
    • (1995) Am J Med Genet , vol.56 , pp. 147-150
    • Dodge, N.N.1    Dobyns, W.B.2
  • 6
    • 0042706380 scopus 로고    scopus 로고
    • Epidermal nevus syndrome: megalencephaly with bihemispheric and cerebellar involvement: imaging and neuropathologic correlation
    • Abdelhalim A.N., Moritani T., Richfield E., Ekholm S.E., Westesson P.L. Epidermal nevus syndrome: megalencephaly with bihemispheric and cerebellar involvement: imaging and neuropathologic correlation. J Comput Assist Tomogr 2003, 27:534-537.
    • (2003) J Comput Assist Tomogr , vol.27 , pp. 534-537
    • Abdelhalim, A.N.1    Moritani, T.2    Richfield, E.3    Ekholm, S.E.4    Westesson, P.L.5
  • 8
    • 33644998123 scopus 로고    scopus 로고
    • Development of the deep cerebellar nuclei: transcription factors and cell migration from the rhombic lip
    • Fink A.J., Englund C., Daza R.A., Pham D., Lau C., Nivison M., et al. Development of the deep cerebellar nuclei: transcription factors and cell migration from the rhombic lip. J Neurosci 2006, 26:3066-3076.
    • (2006) J Neurosci , vol.26 , pp. 3066-3076
    • Fink, A.J.1    Englund, C.2    Daza, R.A.3    Pham, D.4    Lau, C.5    Nivison, M.6
  • 11
    • 34548069945 scopus 로고    scopus 로고
    • Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern
    • Hafner C., López-Knowles E., Luis N.M., Toll A., Baselga E., Fernández-Casado A., et al. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci USA 2007, 104:13450-13454.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 13450-13454
    • Hafner, C.1    López-Knowles, E.2    Luis, N.M.3    Toll, A.4    Baselga, E.5    Fernández-Casado, A.6
  • 12
  • 13
    • 78649620521 scopus 로고    scopus 로고
    • Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma
    • Bourdeaut F., Hérault A., Gentien D., Pierron G., Ballet S., Reynaud S., et al. Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. J Med Genet 2010, 47:859-862.
    • (2010) J Med Genet , vol.47 , pp. 859-862
    • Bourdeaut, F.1    Hérault, A.2    Gentien, D.3    Pierron, G.4    Ballet, S.5    Reynaud, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.