Wolf-Hirschhorn 综合征1例报道并文献复习

钟娩玲, 黄志敏

中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (8) : 927-928.

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中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (8) : 927-928. DOI: 10.11852/zgetbjzz2018-0000
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Wolf-Hirschhorn 综合征1例报道并文献复习

  • 钟娩玲, 黄志敏
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钟娩玲, 黄志敏. Wolf-Hirschhorn 综合征1例报道并文献复习[J]. 中国儿童保健杂志. 2019, 27(8): 927-928 https://doi.org/10.11852/zgetbjzz2018-0000
中图分类号: R725   

参考文献

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[2] Shannon NL, Maltby EL, Rigby AS, et al.An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality[J].J Med Genet,2001,38(10):674-679.
[3] Xing Y, Holder JL, Liu Y, et al.Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling[J].Arch Gynecol Obstet,2018,298(2):289-295.
[4] Concolino D, Rossi E, Strisciuglio P, et al.Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome[J].J Med Genet,2007,44(10):647-650.
[5] 李静, 陈雪, 王兴,等.Wolf-Hirschhorn综合征一例及研究进展[J].中国优生与遗传杂志,2015,23(10):42,66,139.
[6] 郭丽格,刘亚萍.Wolf-Hirschhorn综合征1例报告[J].中国儿童保健杂志,2017,25(1):107-108.
[7] Zollino M, Lecce R, Fischetto R, et al.Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2[J].Am J Hum Genet,2003,72(3):590-597.
[8] Ferrara P, Del Bufalo F, Nicoletti A, et al.Wolf-Hirschhorn syndrome with improvement of renal function[J].Am J Med Genet A,2010,152a(5):1283-1284.
[9] 辜楠, 胡平, 邱玉芳,等.Wolf-Hirschhorn综合征1例[J].中国实用儿科杂志,2013,28(8):638-640.
[10]Gatto A, Ferrara P, Leoni C, et al.Oligonephronia and Wolf-Hirschhorn syndrome: A further observation[J].Am J Med Genet A,2018,176(2):409-414.
[11] 施丹华, 毛倩倩, 张玉鑫,等.应用BACs-on-Beads等技术对一例Wolf-Hirschhorn综合征的产前诊断[J].中国优生与遗传杂志,2017,25(2):82-83.
[12] 李春艳, 徐慧, 宋婷婷,等.BACs-on-Beads技术对Wolf-Hirschhorn(4p-)综合征的产前诊断[J].中国优生与遗传杂志,2017,25(5):27-28.

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