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遗传性心血管-上肢畸形综合征21例的遗传学分析 被引量:2

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摘要 对四家系20例和1例散发的遗传性心血管-上肢畸形综合征患者的临床资料进行遗传学分析,结合文献复习对本征的命名、诊断标准和分型方案等进行讨论,并提出预防措施.
出处 《临床心血管病杂志》 CAS CSCD 北大核心 1994年第2期100-102,共3页 Journal of Clinical Cardiology
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参考文献1

  • 1薛崇成.家族性心脏上肢异常综合征[J]天津医药,1980(06).

同被引文献15

  • 1巫相宏,朱立光,陈宇明,马国添,莫剑梅.家族性单纯房间隔缺损的临床特点和系谱分析[J].临床内科杂志,2007,24(3):178-179. 被引量:3
  • 2Kahler RL, Braundwald E, Plauth WH, et al. Familial occurrence of atrial septal defect with AV Conduction abnormalities [J]. Am J Med, 1966, 40:384-399.
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  • 4Rifai L, Maazouzi W, Sefiani A. Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturb ance and an atrial septal defect in the oval fossa [J]. Cardio Young, 2007,17:107-109.
  • 5Bjornstad PG, Leren TP. Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conductioncaused by mutations in the NKX2. 5 gene[J]. Cardiol Young, 2009, 19 (1): 40-44.
  • 6Benson DW, Silberbach GM, McHugh AK, et al. Mutations in the cardiac transcription factor NKX2. 5 affect diverse cardiac developmental pathways [J]. J Clin Invest, 1999, 104: 1564-1673.
  • 7Schott J J, Benson D W, Basson C T, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science, 1998, 281,108-111.
  • 8Benson D W, Silberbach G M, Ann K M, et al. Mutations in the cardiac transcription factor NKX2-5 affect diverse cardiac developmental pathways. J Clin Invest, 1999,104 ( 11), 1567- 1573.
  • 9刘炜培 叶如芬.房间隔缺损一家系三代七例[J].中华医学遗传学杂志,1992,9(2):109-110.
  • 10尹小妹 郦志军.同一家族房缺3例报道[J].心肺血管病杂志,1997,16(4):301-301.

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