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典型Rett综合征2例报告 被引量:1

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摘要 1临床资料 例1,女,3岁10个月,于2011年12月20日因智力发育倒退伴双手绞拧样动作1年半就诊于江西省儿童医院儿童保健科。母孕期健康,G2P2,足月顺产,出生体质量3.5kg,头围正常。母乳喂养1个月,满月会笑,3个月竖头稳,7个月会坐,
出处 《南昌大学学报(医学版)》 CAS 2012年第3期56-57,共2页 Journal of Nanchang University:Medical Sciences
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  • 1陈蔚,廖建湘,陈黎.促肾上腺皮质激素治疗Rett综合征1例及文献复习[J].中国当代儿科杂志,2009,11(3):235-236. 被引量:1
  • 2吴鹏,蒋莉.Rett综合征的诊断与治疗[J].实用儿科临床杂志,2007,22(24):1902-1904. 被引量:8
  • 3JeffreyL, Walter EK,Daniel G,et al. Rett syndrome:revised diagnostic criteriaand nomenclature[J]. Ann Neurol, 2010,68( 6) : 944-950.
  • 4BengtHagberg,Folker Hanefeld. An update on clinically applicable diagnosticcriteria in Rett syndrome [J]. European Journal of paediatric neurology, 2002,6(5):293-297.
  • 5IourovIY, Vorsanova SG,Xq2B (MECP2) microdeletions are common inmutation-negative females with Rett syndrome and cause mild subtypes of thediease[J]. Mol Cytogenet ,2013,6( 1 ):53.
  • 6SajithSC, Clarke D. Melatonin and sleep disorders associated with intellectualdisability[J]. J Intellect Disabil Res, 2007,5l(Ptl) :2-13.

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