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Volumn 29, Issue 4, 2007, Pages 247-250

Neurological presentation of Griscelli syndrome: Obstructive hydrocephalus without haematological abnormalities or organomegaly

Author keywords

Griscelli disease (GS); Hemophagocytosis; Hydrocephalus

Indexed keywords

ALBINISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; ELECTRON MICROSCOPY; ERYTHROPHAGOCYTOSIS; FEMALE; GENE MUTATION; GRISCELLI SYNDROME; HEMATOLOGIC DISEASE; HUMAN; HYDROCEPHALUS; HYPOPROTEINEMIA; IMMUNE DEFICIENCY; NEUROLOGIC DISEASE; PANCYTOPENIA; PRESCHOOL CHILD; SINUS HISTIOCYTOSIS;

EID: 33847143627     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2006.09.007     Document Type: Article
Times cited : (15)

References (11)
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    • Anikster Y., Huizing M., Anderson P., Fitzpatrick D., Klar A., Gross-Kieselstein E., et al. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB 27A, not MYO5A. Am J Hum Genet 71 (2002) 407-414
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  • 7
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    • Menasche, G.1    Fischer, A.2    De Saint Basile, G.3
  • 8
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    • Griscelli syndrome without hemophagocytosis in an eleven year old girl, expanding the phenotypic spectrum of RAB 27A mutation in humans
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    • (2003) Am J Med Genet A , vol.116 A , pp. 329-333
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  • 9
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    • Bahadoran P., Ballotti R., and Ortonne J.P. Hypomelanosis, immunity, central nervous system: no more? and, not the end. Am J Med Genet A 116A (2003) 334-337
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  • 10
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    • Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.