摘要
先证者（Ⅱ3）女，39岁，四川汉族。因“全身咖啡色斑30＋年、结节10＋年”于2012年5月就诊。30＋年前，患者无明显诱因全身出现散在绿豆至黄豆大小的咖啡色斑，无自觉症状，其后皮损逐渐增大和增多，但未予重视。
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第4期496-497,共2页
Chinese Journal of Medical Genetics
参考文献3
-
1Bolognia JL, Jorizzo JL, Rapini RP, eds. Dermatology. 2nd ed.Spain: Mosby, 2008. 1037-1045.
-
2崔英霞,夏欣一,黄婷婷,魏丽,范晓博,姚兵,戈一峰,李晓军,黄宇烽.一个Ⅱ型神经纤维瘤病家系的临床表现和NF2基因突变分析[J].中华医学遗传学杂志,2010,27(6):688-691. 被引量：2
-
3National Institutes of Health Consensus Development Conference Statement: Neurofibromatosis. Arch Neurol, 1988, 45: 575- 578.
二级参考文献17
-
1Trofatter JA,MacCollin MM,Rutter JL,et al.A novel moesin-,ezrin-,radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.Cell,1993,72:791-800.
-
2Rouleau GA,Mercl P,Lutchman M,et al.Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2.Nature,1993,363:515-521.
-
3Asthagiri AR,Parry DM,Butman JA,et al.Neurofibromatosis type 2.Lancet,2009,373:1974-1986.
-
4Evans DG,Sainio M,Baser ME.Neurofibromatosis type 2.J Med Gene,2000,37:897-904.
-
5Jacoby LB,MacCollin M,Louis D,et al.Exon scanning for mutation of the NF2 gene in schwannomas.Hum Mol Genet,1994,3:413-419.
-
6Knudson AG Jr.Mutation and cancer:statistical study of retinoblastoma.Proc Natl Acad Sci U S A,1971,68:820-823.
-
7Sestini R,Provenzano A,Bacci C,et al.NF2 mutation screening by denaturing high-performance liquid chromatography and highresolution melting analysis.Genet Test,2008,12:311-318.
-
8Baser ME,Kuramoto L,Woods R,et al.The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.J Med Genet,2005,42:540-546.
-
9Evans DG,Trueman L,Wallace A,et al.Genotype/phenotype correlations in type 2 neurofibromatosis (NF2):evidence for more severe disease associated with truncating mutations.J Med Genet,1998,35:450-455.
-
10Parry DM,MacCollin MM,Kaiser-Kupfer MI,et al.Germ-line mutations in the neurofibromatosis 2 gene:correlations with disease severity and retinal abnormalities.Am J Hum Genet,1996,59:529-539.
同被引文献7
-
1王亚明,于新,田增民,王洪伟,刘锐,卢旺盛.神经纤维瘤病在中枢神经系统的临床表现和治疗(附14例报告及文献复习)[J].中国现代神经疾病杂志,2007,7(4):357-363. 被引量：14
-
2Femer RE,Huson SM, Thomas N,et al. Guidelines for thediagnosis and management of individuals with neurofibromatosis 1[J]. J Med Genet, 2007,44(2) :81-88. DOI: 10. 1136/jmg.2006.045906.
-
3Gottfried ON, Viskochil DH, Fults DW, el al. Molecular,genetic,and cellular pathogenesis of neurofibromas and surgicalimplications[ J]. Neurosurgery, 2006,58(1 ) : 1-16; discussion1-16.
-
4Guillamo JS,Cr^ange A, Kalifa C,et al. Prognostic factors ofCNS tumours in Neurofibromatosis 1 ( NF1) :a retrospeclive studyofi04 patients[J]. Brain, 2003,126( Pt 1):152-160.
-
5Conference statement. National Institutes of Health ConsensusDevelopment Conference. Neurofibromatosis [ J ]. Arch Neurol,1988,45(5):575-578.
-
6Belsuzarri TA, Araujo JF, Melro CA, et al. MoCune-Albrightsyndrome with craniofacial dysplasia : Clinical review and sui^i-calmanagement[ J]. Sui^ Neurol Int,2016,7 ( Suppl 6) : S165-S169. DOI: 10.4103/2152-7806.178567. eCollection 2016.
-
7范振,魏祥品,钱若兵,傅先明,牛朝诗.小脑实质内神经纤维瘤病一例报告并文献复习[J].中华神经外科杂志,2011,27(4):515-517. 被引量：1
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