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家族性Ⅰ型神经纤维瘤病2例

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摘要 例1,男,35岁。自幼发现全身多处皮肤肿物,以上肢、胸腹部为主,初始黄豆大小,随年龄逐渐增大、增多,近7年来头枕部肿物明显增大。查体见枕部头皮肿物,大小约19 cm×14 cm×3 cm,左前胸3处相连的纵行条索状肿物,各约15 cm×10 cm×3 cm,肥厚呈皮囊样下垂,无压痛,无红肿,无破溃。躯干表面可见散在的基底部略窄的类圆形蒂状肿物,大小介于蚕豆与核桃之间,
出处 《临床军医杂志》 CAS 2015年第3期329-330,共2页 Clinical Journal of Medical Officers
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  • 1薛文君,王明青,马晓东,马红蕊,黄国宝.神经纤维瘤的整形外科治疗[J].中华医学美学美容杂志,2005,11(6):344-347. 被引量:11
  • 2Friedman JM, Riccardi VM. Clinical and epidemiological features, in Friedman JM, Gutmann H, MacCollin M, Riccardi VM(eds): Neurofibromatosis: Phenotype, Nature History, and Pathogenesis, 3rd ed. Baltimore, Johns Hopkins Press, 1999,29-86. 被引量:1
  • 3Tong J, Hanna F, Zhu Y, et al. Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci, 2002,5:95-96. 被引量:1
  • 4Dasgupta B, Dugan LL, Gutmann DH. The Neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase activating polypeptide-mediated signaling in astrocytes. J Neurosci, 2003,23:8949-8954. 被引量:1
  • 5Chong JA, Moran MM, Teichmann M, et al. TATA-binding protein (TBP)-like factor (TLF) is a functional regulator of transcription: reciprocal regulation of the neurofibromatosis type 1 and c-fos genes by TLF/TRF2 and TBP. Mol Cell Biol, 2005,25:2632-2643. 被引量:1
  • 6Mancini DB, Singh SM, Archer TK, et al. Site-specific DNA methylation in the neurofibromatosis(NF1) promoter interferes with binding of CREB and SP1 transcription factors, Oncogene, 1999,18:4108-4119. 被引量:1
  • 7Harder A, Rosche M, Reuss DE, et al. Methylation analysis of the neurofibromatosis type 1 (NF1) promoter in peripheral nerve sheath tumours. Eur J Cancer, 2004,40:2820-2828. 被引量:1
  • 8Friedman JM. Neurofibromatosis 1:Clinical manifestations and diagnostic criteria, J Child Neurol, 2002,17:548-554. 被引量:1
  • 9Carey J, Viskochil D. Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders. Am J Med Genet, 1999,89:7-13. 被引量:1
  • 10Fahsold R, Hoffmeyer S, Mischung C, et al. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet, 2000,66:790-818. 被引量:1

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