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Volumn 302, Issue 19, 2009, Pages 2150-2151

Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): Potential diagnostic dilemmas

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CAFE AU LAIT SPOT; CLINICAL FEATURE; DIAGNOSTIC VALUE; EDITORIAL; GENE DELETION; GENE MUTATION; HUMAN; LEGIUS SYNDROME; LENTIGO; NEUROFIBROMATOSIS TYPE 1 LIKE SYNDROME; NF1 GENE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SKIN PIGMENTATION; SPRED1 GENE;

EID: 71749117156     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2009.1690     Document Type: Editorial
Times cited : (11)

References (12)
  • 1
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    • Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome
    • Messiaen L, Yao S, Brems H, et al. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009;302(19):2111-2118.
    • (2009) JAMA , vol.302 , Issue.19 , pp. 2111-2118
    • Messiaen, L.1    Yao, S.2    Brems, H.3
  • 4
    • 67650470276 scopus 로고    scopus 로고
    • SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
    • Pasmant E, Sabbagh A, Hanna N, et al. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. 2009;46(7):425-430.
    • (2009) J Med Genet , vol.46 , Issue.7 , pp. 425-430
    • Pasmant, E.1    Sabbagh, A.2    Hanna, N.3
  • 5
    • 67650489624 scopus 로고    scopus 로고
    • SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
    • Spurlock G, Bennett E, Chuzhanova N, et al. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet. 2009;46(7):431-437.
    • (2009) J Med Genet , vol.46 , Issue.7 , pp. 431-437
    • Spurlock, G.1    Bennett, E.2    Chuzhanova, N.3
  • 6
    • 70349257801 scopus 로고    scopus 로고
    • SPRED1 disorder and predisposition to leukemia in children
    • Pasmant E, Ballerini P, Lapillonne H, et al. SPRED1 disorder and predisposition to leukemia in children. Blood. 2009;114(5):1131.
    • (2009) Blood , vol.114 , Issue.5 , pp. 1131
    • Pasmant, E.1    Ballerini, P.2    Lapillonne, H.3
  • 7
    • 0023885121 scopus 로고
    • Neurofibromatosis: Conference statement: National Institutes of Health Consensus Development Conference
    • Neurofibromatosis: conference statement: National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45(5):575-578.
    • (1988) Arch Neurol , vol.45 , Issue.5 , pp. 575-578
  • 9
    • 0001698792 scopus 로고
    • Axillary freckling as a diagnostic aid in neurofibromatosis
    • Crowe FW. Axillary freckling as a diagnostic aid in neurofibromatosis. Ann Intern Med. 1964;61:1142-1143.
    • (1964) Ann Intern Med , vol.61 , pp. 1142-1143
    • Crowe, F.W.1
  • 10
    • 34547657613 scopus 로고    scopus 로고
    • The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
    • Stevenson DA, Viskochil DH, Schorry EK, et al. The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Genet Med. 2007;9(7):409-412.
    • (2007) Genet Med , vol.9 , Issue.7 , pp. 409-412
    • Stevenson, D.A.1    Viskochil, D.H.2    Schorry, E.K.3
  • 11
    • 61849107166 scopus 로고    scopus 로고
    • A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - Evidence for different genetic origins
    • Nyström AM, Ekvall S, Strömberg B, et al. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. Acta Paediatr. 2009;98(4):693-698.
    • (2009) Acta Paediatr , vol.98 , Issue.4 , pp. 693-698
    • Nyström, A.M.1    Ekvall, S.2    Strömberg, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.