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UBE3A基因突变型Angelman综合征一例并文献复习 被引量:3

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摘要 1病例 患儿,2岁,因"生后至今不能独走"收入院。患儿系G4P2,母孕38w顺产,BW3.4 kg,阿氏评分良好。新生儿期无病理性黄疸、窒息及抽搐史。
出处 《中国优生与遗传杂志》 2015年第9期90-92,共3页 Chinese Journal of Birth Health & Heredity
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  • 1Horsthemke B, Wagstaff J. Mechanisms of imprinting of the Prader - WilliiAngelman region[J]. Am J Med Genet, 2008, 146A :2041 -2052.
  • 2Fang P. Lev-Lehman E. Tsai TF. et aJ. The spectrum of mutations in UB-E3A causing Angelman syndrome[J]. Hum Mol Genet. 1999 Jan.8 o ?. 129-35.
  • 3Baumer A. Balmer D. Schinzel A. Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according a nonstringent clinical criteria[J]. Hum Genet. 1999. 105 (6) :598-602.
  • 4Williams CA. Beaudet AL. Clayton Smith J. et al. Angelman syndrome 2005 .updated consensus for diagnostic criteria[J]. Am J Med Genet A.2006. 140 (5) :413-8.
  • 5Liehr T. Kosyakova N. Small supernumerary marker chromosomes (sSMC) what about the genotype phenotype correlation?[J]. Tsitologiia. 2013. 55 (3): 165-6.
  • 6Varela MC. Kok F. DUo PA. et al. Phenotypic variability in Angelman syndrome :comparison among different deletion classes and between deletion and UPD subjects[J]. Eur J Hum Genet. 2004. 12 :987-992.
  • 7Sahoo T. Bacino CA. German JR. et al. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH : molecular characterization and genotype phenotype correlations[J]. EurJHumGenet.2007.15 (9) :943-9.
  • 8Dagli A. Buiting K. Williams CA. Molecular and Clinical Aspects of Angelman Syndrome[J]. Mol Syndromol.2012.2 (3-5): 100-112.
  • 9Jiang YH. Pan Y. Zhu L. et al. Altered ultrasonic vocalization and impaired leaming and memory in Angelman syndrome mouse model with a large maternall deletion from Ube3a to Gabrb3[J]. PLoSOne.2010.5 (B) :e1227B.
  • 10Tan WHo Bacino CA. Skinner SA. et al. Angelman syndrome: Mutations influence features in early childhood[J]. Am J Med GenetA.2011,l55A (j) :BI-90.

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