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Volumn 1, Issue 3, 2010, Pages 133-135

An illustrative case of neurofibromatosis type 1 and NF1 microdeletion

Author keywords

Neurofibromatosis type I; NF1 microdeletion; Proteus syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; FACE DYSMORPHIA; GENE DELETION; HIRSUTISM; HISTOPATHOLOGY; HUMAN; HYPERTELORISM; MALE; MULTIPLE CANCER; NEUROFIBROMATOSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; SCHOOL CHILD; SLIT LAMP;

EID: 79952134287     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000319976     Document Type: Article
Times cited : (3)

References (12)
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    • Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
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    • (2004) Hum Mutat , vol.23 , pp. 111-116
    • Kluwe, L.1    Siebert, R.2    Gesk, S.3    Friedrich, R.E.4    Tinschert, S.5
  • 11
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    • Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
    • Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, et al: Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 102: 591-597 (1998).
    • (1998) Hum Genet , vol.102 , pp. 591-597
    • Upadhyaya, M.1    Ruggieri, M.2    Maynard, J.3    Osborn, M.4    Hartog, C.5
  • 12
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    • Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
    • Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, et al: Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 358: 210-211 (2001).
    • (2001) Lancet , vol.358 , pp. 210-211
    • Zhou, X.1    Hampel, H.2    Thiele, H.3    Gorlin, R.J.4    Hennekam, R.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.