期刊文献+

基因突变致原发性小头畸形一家系 被引量:2

原文传递
导出
摘要 先证者,女,5岁,因为“头小、多动、智力发育落后”于2011年8月就诊。
出处 《中华围产医学杂志》 CAS 北大核心 2013年第9期575-577,共3页 Chinese Journal of Perinatal Medicine
基金 江苏省妇幼保健重点学科(FXK201216) 苏州市科技计划项目(SS0717、SZS201206)
  • 相关文献

参考文献19

  • 1Jackson AP, McHale DP, Campbell DA, et al. Primary autosomal recessive microcephaly ( MCPH1 ) maps to chromosome8p22 pter. Am J Hum Genet, 1998, 63:541 546.
  • 2Roberts E, Jackson AP, Carradice AC, et al. The second loeus for autosomal recessive primary microcephaly(MCPH2) maps to chromosome 19q]3. 1-13. 2. Eur J Hum Genet, 1999, 7:815 820.
  • 3Moynihan L, Jackson AP, Roberts g, et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet, 2000, 66: 724-727.
  • 4Jamieson CR, Govaerts C, Abramowicz MJ. Primary aotosomal recessive microcephaly homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet, 1999, 65= 1465 1469.
  • 5Jamieson CR, Fryns JP, Jaeobs J, et al. Primary autosomal recessive microcephaly: MCPH5 maps to lq25 q32. Am J Hum Genet, 2000, 67 1575-1577.
  • 6Lea/ GF, Roberts E, Silva EO, et al. A novel locus for amosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J MedGenet, 2003, 40:540 542.
  • 7Kumar A, Girimaji SC, Duvvari MR, et al. Mutations in STIL, encoding a pericentrioIar and centrosoma! protein, cause primary microcephaly. Am J Hum Genet, 2009, 84: 286-290.
  • 8Hussain MS, Baig SM, Neumann S, et al. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J tlum Genet, 2012, 90 871-878.
  • 9Genin A, Desir J, Lambert N, et al. Kinetochore KMN network gene CASC5 mulated in primary microcephaly. Hum Mol Genet, 2012, 21: 5306-5317.
  • 10Darvish H, Esmaeeli Nieh S, Monajemi GB, et al. A clinical and molecular genetic study of 112 Iranian families with primarymicrocephaly. J Med Genet, 2010, 47 823-828.

同被引文献8

引证文献2

二级引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部