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van der Woude综合征的研究进展 被引量：3

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摘要 范德伍综合征是一种单基因遗传疾病,呈常染色体显性遗传模式,是最常见的综合征型唇腭裂。其主要临床特征为下唇凹陷或瘘管以及唇裂和(或)腭裂。研究表明,该病是由于干扰素调节因子6发生基因突变引起。近年来关于该综合征的报道日益增多,本文就其临床表现、遗传学研究、诊断与治疗做一综述。
作者 李午丽 梅陵宣
机构地区 安徽医科大学附属口腔医院口腔内科
出处 《中国优生与遗传杂志》 2007年第11期122-123,104,共3页 Chinese Journal of Birth Health & Heredity
关键词 范德伍综合征(VWS) 干扰素调节因子6 突变
分类号 R782 [医药卫生—口腔医学] R596 [医药卫生—内科学]
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二级参考文献10

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共引文献6

同被引文献35

  • 1黄长波,阎寒松,陈昕,叶晓茜,边专,金辉喜.一个范德伍德综合征家系的IRF6基因突变检测[J].口腔医学研究,2006,22(3):322-325. 被引量：4
  • 2傅松滨.医学遗传学.第1版.北京:人民卫生出版社.2002.50-53.
  • 3Carinci F,Scapoli L,Palmieri A,et al.Human genetic factors in nonsyn- dromic cleft lip and palate:an update [J].Int J Pediatr Otorhinolaryn- gol, 2007,71(10):1509-1519.
  • 4Calzolari E, Pierini A, Astolft G, et al.Associated anomalies in multi- malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries [J]. Am J Med Genet A, 2007,143(6):528-537.
  • 5Forrester MB, Merz RD. Descriptive epidemiology of oral clefts in a multiethnic population, Hawaii, i 986-2000[J]. Cleft Palate-Craniofacial Journal, 2004, 41 (6):622-628.
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  • 7Calzolari E,Pierini A,Astolfi G,et al.Associated anomalies in multi- malformed infants with cleft lip and palate:An epidemiologic study of nearly 6 million births in 23 EUROCAT registries [J]. Am J Med Genet A,2007,143(6):528-537.
  • 8Kondo S, Schutte BC, Richardson RJ, et al. Mutations in IRF6 cause Van der Woude and pop liteal pterygium syndromes [J]. Nat Genet, 2002, 32(2):285-289.
  • 9D Ai L,ZhU J,Mao M,et al.Time trends in oral clefts in Chinese new- bores: data from the Chinese National Birth Defects Monitoring Net- work[J].Birth Defects Res A Clin Mol Teratol,2010,88(1):41-47.
  • 10Au WC,Yeow WS,Pitha PM. Analysis of functional domains of inter- feron regulatory factor 7 and its association with IRF-3 [J]. Virology, 2001,280(2):273-282.

引证文献3

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中国优生与遗传杂志
2007年 第11期

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